Disease #06886 (HR (hypophosphataemic rickets))

Official abbreviation	HR
Name	hypophosphataemic rickets
OMIM ID	-
Inheritance	-
Individuals reported having this disease	701
Phenotype entries for this disease	681
Associated with 3 genes	CLCN5, FGF23, PHEX
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-18 20:30:38 +01:00 (CET)
Date last edited	2021-12-18 20:31:29 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
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Algeria
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Andorra
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Angola
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Belarus
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Belgium
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Belize
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Benin
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Bermuda
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Bhutan
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Congo
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Cook Islands
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Costa Rica
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Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
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Cuba
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Cyprus
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Czech Republic
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Denmark
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Dominica
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El Salvador
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England
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Equatorial Guinea
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Estonia
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Ethiopia
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Faroe Islands
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Fiji
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Finland
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France
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Gabon
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Gambia
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Georgia
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Germany
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Ghana
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Gibraltar
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Guam
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Guatemala
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Guiana, French
(Guiana, French)
Guinea
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Guinea-Bissau
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Guyana
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Hong Kong
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Hungary
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Italy
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Jamaica
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Japan
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Jordan
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Kazakhstan
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Kenya
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Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
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Laos
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Latvia
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Lesotho
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Liberia
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Libya
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Lithuania
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Macau
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Macedonia
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Malawi
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Malaysia
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Neutral Zone (Saudia Arabia/Iraq)
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New Zealand
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Panama
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Paraguay
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Peru
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Poland
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Reunion
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Romania
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Russia
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Russian Federation
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
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Solomon Islands
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Somalia
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South Africa
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Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
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Turkmenistan
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Turks and Caicos Islands
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Tuvalu
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Uganda
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Ukraine
(Ukraine)
United Arab Emirates
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United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
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Uruguay
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US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
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Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
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<	Numeric	<23	all entries lower than 23
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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701 entries on 8 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00397006	patient	PubMed: Canete 2014	2-generation family, affected twin sisters, unaffected non-carrier parents	F	-	Spain	-	-	-	-	-	HR	see paper; ..., hypophosphataemic rickets, short stature, bilateral genu varum tibias	PHEX	PHEX	1	2	Johan den Dunnen
00397008	patient	PubMed: Chen 2019	4-generation family, 7 affected (5F, 2M)	F;M	-	China	-	-	-	-	-	HR	see paper; ...	PHEX	PHEX	1	7	Johan den Dunnen
00397009	family	PubMed: Fang 2016	2-generation family, 6 affected (4F, 2M)	F;M	-	China	-	-	-	-	-	HR	see paper; ...	PHEX	PHEX	1	6	Johan den Dunnen
00397010	family	PubMed: Fratzl-Zelman 2020	3-generation family, 4 affected (2F, 2M)	F;M	-	Austria	-	-	-	-	-	HR	see paper; ...	PHEX	PHEX	1	4	Johan den Dunnen
00397011	patient	PubMed: Fratzl-Zelman 2020	-	M	-	Austria	-	-	-	-	-	HR	see paper; ...	PHEX	PHEX	1	1	Johan den Dunnen
00397012	family	PubMed: Fratzl-Zelman 2020	2-generation family, 3 affected (mother, son, daughter)	F;M	-	Austria	-	-	-	-	-	HR	see paper; ...	PHEX	PHEX	1	3	Johan den Dunnen
00397013	family	PubMed: Huang 2019	4-generation family, 8 affected (4F, 4M)	F;M	-	China	-	-	-	-	-	HR	see paper; ...	PHEX	PHEX	1	8	Johan den Dunnen
00397014	family	PubMed: Jo 2020	4-generation family, 9 affected (4F, 5M)	F;M	-	Korea	-	-	-	-	-	HR	see paper; ...	PHEX	PHEX	1	9	Johan den Dunnen
00397015	family	PubMed: Kawahara 2015	3-generation family, 3 affected (grandmother, father, daughter)	F;M	-	Japan	-	-	-	-	-	HR	see paper; ...	PHEX	PHEX	1	3	Johan den Dunnen
00397016	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397017	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397018	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397019	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397020	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397021	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	2	1	Johan den Dunnen
00397022	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397023	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397024	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397025	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397026	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397027	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397028	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397029	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397030	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397031	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397032	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397033	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397034	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397035	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397036	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397037	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397038	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397039	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397040	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397041	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397042	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397043	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397044	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397140	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397141	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397142	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397143	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397144	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397145	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	2	1	Johan den Dunnen
00397146	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397147	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397148	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397149	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397150	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397151	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397152	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397153	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397154	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397155	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397156	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397157	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397158	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397159	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397160	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397161	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397162	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397163	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397164	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397165	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397166	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397167	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397168	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397169	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	-	-	1	Johan den Dunnen
00397170	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397171	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397172	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397173	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397174	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397175	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397176	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397177	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397178	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397179	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397180	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397181	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397182	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397183	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397184	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397185	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397186	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397187	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397188	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397189	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397190	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397191	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397192	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397193	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397194	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397195	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397196	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397197	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397198	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397199	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397200	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen
00397201	-	PubMed: Zhang 2019	-	-	-	China	-	-	-	-	-	HR	-	PHEX	PHEX	1	1	Johan den Dunnen

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