All individuals with variants in gene PTCH1

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
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
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	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
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

520 entries on 6 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00036599	-	-	-	-	-	Germany	-	-	-	-	-	BCNS	suspected Goltz-Gorlin-Syndrom	1	1	Andreas Laner
00036603	-	-	-	-	-	Germany	-	-	-	-	-	?	Clinically Gorlin-Goltz syndrome, Hypertelorism, Strabism, facial Dysmorphy, Ptosis, short stature	1	1	Andreas Laner
00036607	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036608	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Goltz-Gorlin syndrome	1	1	Andreas Laner
00036613	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Goltz-Gorlin syndrome, basalioma	1	1	Andreas Laner
00036614	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Goltz-Gorlin syndrome	1	1	Andreas Laner
00036615	-	-	-	-	-	Germany	-	-	-	-	-	?	BCNS, brain tumour; other patient: suspected Gorlin syndrome	1	1	Andreas Laner
00036616	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Goltz-Gorlin syndrome	1	1	Andreas Laner
00056272	-	PubMed: Ming 2002, Journal: Ming 2002	affected girl and clincally unaffected carrier father	F	-	United States	-	-	-	-	-	HPE	bilateral cleft lip/palate (HP:0002744), semilobar holoprosencephaly (HP:0002507), hypopituitarism (HP:0040075), absent anterior and partly absent posterior interhemispheric fissure, continuity frontal lobe, continuous gyri across midline, midline ventricle with single frontal horn but partial separation posterior horns, partial separation parietal/occipital lobes	1	2	Johan den Dunnen
00056273	-	PubMed: Ming 2002, Journal: Ming 2002	clinically unaffected father Pat83	M	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00056274	-	PubMed: Ming 2002, Journal: Ming 2002	brother Pat83	M	-	United States	-	-	-	-	-	?	hypotelorism (HP:0000601), developmental delay (HP:0001263)	1	1	Johan den Dunnen
00056275	-	PubMed: Ming 2002, Journal: Ming 2002	2-generation family, 2 affected bothers, clinically unaffected carrier father, healthy non-carreir mother/sister	M	-	United States	-	-	-	-	-	HPE	alobar holoprosencephaly (HP:0006988), hypotelorism (HP:0000601), upward slanting palpebral fissures (HP:0000582)	1	3	Johan den Dunnen
00056276	-	PubMed: Ming 2002, Journal: Ming 2002	clinically healthy carrier father Pat180	M	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00056311	-	PubMed: Ming 2002, Journal: Ming 2002	2-generation family, affected sister and brother (mother not carrier, father untested)	F	-	United States	-	-	-	-	-	HPE	semilobar holoprosencephaly (HP:0002507), absent corpus callosum (HP:0001274), fused thalami (HP:0010664)	1	2	Johan den Dunnen
00056312	-	PubMed: Ming 2002, Journal: Ming 2002	bother Pat1335	M	-	United States	-	-	-	-	-	HPE	single central maxillary incisor, bilateral cleft lip/palate (HP:0002744), developmental delay (HP:0001263)	1	1	Johan den Dunnen
00056313	-	PubMed: Ming 2002, Journal: Ming 2002	2-generation family, affected girl, normal mother (no carrier), father untested	F	-	United States	-	-	-	-	-	HPE	holoprosencephaly (HP:0002507), partial agenesis corpus callosum (HP:0001338), panhypopituitarism (HP:0000871), midline cleft lip/palate (HP:0008501), small omphalocele (HP:0001539), mild/moderate developmental delay (HP:0011342)	2	1	Johan den Dunnen
00056314	-	PubMed: Ming 2002, Journal: Ming 2002	clincally unaffected carrier mother 775	F	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00056315	-	PubMed: Ming 2002, Journal: Ming 2002	2-generation family, affected girl and clincally unaffected carrier mother	F	-	United States	-	-	-	-	-	HPE	holoprosencephaly (HP:0002507), seizures (HP:0001250), bilateral cleft lip (HP:0100336)	1	2	Johan den Dunnen
00063298	-	PubMed: Guo 2013	-	-	-	-	-	-	-	-	-	KCOT	-	1	1	Michel van Geel
00063299	-	PubMed: Savino 2004	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063300	-	PubMed: Minami 2001	case 2	F	-	Japan	-	-	-	-	-	BCNS	multiple jaw cysts and BCCs, broad nasal root, hypertelorism, frontal bossing, palmoplantar pits, bifid rib, calcification of the falx cerebri and enlargement of the cerebral ventricles.	1	1	Michel van Geel
00063301	-	PubMed: Savino 2004	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063302	-	PubMed: Li 2008	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063303	-	PubMed: Tanioka 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063304	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063305	-	PubMed: Soufir 2006	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063306	-	PubMed: Suzuki 2012	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063307	-	PubMed: Wicking 1997,PubMed: Wicking 1997	Sporadic patient JHG547	-	-	-	-	-	-	-	-	BCNS	Multiple BCC, dense calcification of falx, palmar pitting, keratocysts, high arched palate.	1	1	Michel van Geel
00063308	-	PubMed: Marsh 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063309	-	PubMed: Endo 2009	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063310	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063311	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063312	-	PubMed: Savino 2004	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063313	-	PubMed: Zhang 2011	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063314	-	PubMed: Shevchenko 2000	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063315	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063316	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063317	-	PubMed: Matsuzawa 2006	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063318	-	PubMed: Sun 2008	-	-	-	-	-	-	-	-	-	KCOT	-	1	1	Michel van Geel
00063319	-	PubMed: Guo 2013	-	-	-	-	-	-	-	-	-	KCOT	-	1	1	Michel van Geel
00063320	-	PubMed: Mansilla 2006	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063321	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063322	-	PubMed: Kool 2014	-	-	-	-	-	-	-	-	-	MDB	-	1	1	Michel van Geel
00063323	-	PubMed: Romano 2011	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063324	-	PubMed: Hahn 1996	Pedigree 2587, 7 family members, 5 affected	-	-	-	-	-	-	-	-	BCNS	-	1	5	Michel van Geel
00063325	-	PubMed: Alonso-Gonzalez 2012	-	M	-	Spain	-	-	-	-	-	BCNS	-	1	3	Michel van Geel
00063326	-	PubMed: Aszterbaum 1998	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063327	-	PubMed: Pastorino 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063328	-	PubMed: Skodric-Trifunovic 2015	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063329	-	PubMed: Scott 2007	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063330	-	PubMed: Hahn 1996	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063331	-	PubMed: Ogata 2001	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063332	-	PubMed: Ming 2002	-	-	-	-	-	-	-	-	-	HPE7	-	1	1	Michel van Geel
00063333	-	PubMed: Takahashi 2009	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063334	-	PubMed: Pruvost-Balland 2006	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063335	-	PubMed: Pastorino 2012	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063336	-	PubMed: Wei 2014	-	-	-	-	-	-	-	-	-	OPLL	-	1	1	Michel van Geel
00063337	-	PubMed: Nakamura 2009	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063338	-	PubMed: Ribeiro 2006	-	-	-	-	-	-	-	-	-	HPE7	-	1	1	Michel van Geel
00063339	-	Kitano 2013 J Oral Maxillofac Surg Med Pathol	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063340	-	PubMed: Wicking 1997	Sporadic patient TM	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063341	-	PubMed: Matsuzawa 2006	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063342	-	PubMed: Pastorino 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063343	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063344	-	PubMed: Matsuzawa 2006	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063345	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063346	-	PubMed: Chidambaram 1996	NBCCS5	M	-	-	African-American	-	-	-	-	BCNS	BCCs in 1 patient, odontogenic keratocysts in 2 patients, palmar and/or plantar pits in 1 patient, medulloblastoma in 1 patient.	1	2	Michel van Geel
00063347	-	PubMed: Fujii 2003	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063348	-	PubMed: Chidambaram 1996	NBCCS6	-	-	-	white	-	-	-	-	BCNS	-	1	3	Michel van Geel
00063349	-	PubMed: Guo 2013	-	-	-	-	-	-	-	-	-	KCOT	-	1	1	Michel van Geel
00063350	-	PubMed: Wicking 1997	Sporadic patient PP	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063351	-	PubMed: Hasenpusch-Theil 1997	Patient C2	F	-	-	-	-	-	-	-	BCNS	multiple jaw cysts, hypertelorism, many BCCs, spina bifida occulta of the upper and lower thoracic dorsal arches.	1	3	Michel van Geel
00063352	-	PubMed: Tanioka 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063353	-	PubMed: Gururangan 2015	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063354	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063355	-	PubMed: Crawford 2009	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063356	-	PubMed: Wilson 2006	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063357	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063358	-	PubMed: Li 2008	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063359	-	PubMed: Hasenpusch-Theil 1997	Patient T1	M	-	-	-	-	-	-	-	BCNS	jaw cysts, palmar pits, calcified falx cerebri, bridging of the sella turcica, large naevi on his back and spina bifida occulta of the cervical and thoracic region.	1	1	Michel van Geel
00063360	-	PubMed: Wicking 1997,PubMed: Wicking 1997	Sporadic patient DD25	-	-	-	-	-	-	-	-	BCNS	Keratocysts, dense calcification of falx, macrocephaly, congenital anomaly of thoracic vertebrae.	1	1	Michel van Geel
00063361	-	PubMed: Wicking 1997	Sporadic patient BH	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063362	-	PubMed: Marsh 2005	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063363	-	PubMed: Ming 2002	-	-	-	-	-	-	-	-	-	HPE7	-	1	1	Michel van Geel
00063364	-	PubMed: Ponti 2012	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063365	-	PubMed: Ribeiro 2006	-	-	-	-	-	-	-	-	-	HPE7	-	1	1	Michel van Geel
00063366	-	PubMed: Soufir 2006	-	-	-	-	-	-	-	-	-	BCC1	-	1	1	Michel van Geel
00063367	-	PubMed: Kansal 2007	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063368	-	PubMed: Roudgari 2012	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063369	-	PubMed: Endo 2009	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063370	-	PubMed: Soufir 2006	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063371	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063372	-	PubMed: Ming 2002	-	-	-	-	-	-	-	-	-	HPE7	-	1	1	Michel van Geel
00063373	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063374	-	PubMed: Soufir 2006	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063375	-	PubMed: Ribeiro 2006	-	-	-	-	-	-	-	-	-	HPE7	-	1	1	Michel van Geel
00063376	-	PubMed: Barreto 2000	-	M	-	-	-	-	-	-	-	BCNS	frontal bossing, marfanoid build, bifid rib, and hypertelorism.	1	1	Michel van Geel
00063377	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063378	-	PubMed: Aszterbaum 1998	-	-	-	-	-	-	-	-	-	BCNS	-	1	1	Michel van Geel
00063379	-	PubMed: Hasenpusch-Theil 1997	Patient L2	-	-	-	-	-	-	-	-	BCNS	jaw cysts, bifid ribs, scoliosis, kyphosis, hypertelorism and numerous BCCs on face, scalp and trunk.	1	1	Michel van Geel

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Global Variome shared LOVD

PTCH1 (patched 1)