Disease #01191 (BCNS (basal cell nevus syndrome (BCNS, Gorlin-Goltz syndrome)), OMIM:109400)

Official abbreviation	BCNS
Name	basal cell nevus syndrome (BCNS, Gorlin-Goltz syndrome)
OMIM ID	109400
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	424
Phenotype entries for this disease	411
Associated with 3 genes	PTCH1, PTCH2, SUFU
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +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
(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.

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Example	Matches
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424 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		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
00036599	-	-	-	-	-	Germany	-	-	-	-	-	BCNS	suspected Goltz-Gorlin-Syndrom	PTCH1	PTCH1	1	1	Andreas Laner
00063299	-	PubMed: Savino 2004	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	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.	PTCH1	PTCH1	1	1	Michel van Geel
00063301	-	PubMed: Savino 2004	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063302	-	PubMed: Li 2008	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063303	-	PubMed: Tanioka 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063304	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063305	-	PubMed: Soufir 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063306	-	PubMed: Suzuki 2012	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	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.	PTCH1	PTCH1	1	1	Michel van Geel
00063308	-	PubMed: Marsh 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063309	-	PubMed: Endo 2009	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063310	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063311	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063312	-	PubMed: Savino 2004	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063313	-	PubMed: Zhang 2011	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063314	-	PubMed: Shevchenko 2000	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063315	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063316	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063317	-	PubMed: Matsuzawa 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063320	-	PubMed: Mansilla 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063321	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063323	-	PubMed: Romano 2011	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063324	-	PubMed: Hahn 1996	Pedigree 2587, 7 family members, 5 affected	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	5	Michel van Geel
00063325	-	PubMed: Alonso-Gonzalez 2012	-	M	-	Spain	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	3	Michel van Geel
00063326	-	PubMed: Aszterbaum 1998	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063327	-	PubMed: Pastorino 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063328	-	PubMed: Skodric-Trifunovic 2015	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063329	-	PubMed: Scott 2007	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063330	-	PubMed: Hahn 1996	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063331	-	PubMed: Ogata 2001	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063333	-	PubMed: Takahashi 2009	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063334	-	PubMed: Pruvost-Balland 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063335	-	PubMed: Pastorino 2012	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063337	-	PubMed: Nakamura 2009	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063339	-	Kitano 2013 J Oral Maxillofac Surg Med Pathol	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063340	-	PubMed: Wicking 1997	Sporadic patient TM	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063341	-	PubMed: Matsuzawa 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063342	-	PubMed: Pastorino 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063343	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063344	-	PubMed: Matsuzawa 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063345	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	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.	PTCH1	PTCH1	1	2	Michel van Geel
00063347	-	PubMed: Fujii 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063348	-	PubMed: Chidambaram 1996	NBCCS6	-	-	-	white	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	3	Michel van Geel
00063350	-	PubMed: Wicking 1997	Sporadic patient PP	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	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.	PTCH1	PTCH1	1	3	Michel van Geel
00063352	-	PubMed: Tanioka 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063353	-	PubMed: Gururangan 2015	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063354	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063355	-	PubMed: Crawford 2009	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063356	-	PubMed: Wilson 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063357	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063358	-	PubMed: Li 2008	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	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.	PTCH1	PTCH1	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.	PTCH1	PTCH1	1	1	Michel van Geel
00063361	-	PubMed: Wicking 1997	Sporadic patient BH	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063362	-	PubMed: Marsh 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063364	-	PubMed: Ponti 2012	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063367	-	PubMed: Kansal 2007	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063368	-	PubMed: Roudgari 2012	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063369	-	PubMed: Endo 2009	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063370	-	PubMed: Soufir 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063371	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063373	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063374	-	PubMed: Soufir 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063376	-	PubMed: Barreto 2000	-	M	-	-	-	-	-	-	-	BCNS	frontal bossing, marfanoid build, bifid rib, and hypertelorism.	PTCH1	PTCH1	1	1	Michel van Geel
00063377	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063378	-	PubMed: Aszterbaum 1998	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	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.	PTCH1	PTCH1	1	1	Michel van Geel
00063380	-	PubMed: Santos 2011	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063381	-	PubMed: Tanioka 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063383	-	PubMed: Wicking 1997	Family PB	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063384	-	PubMed: Soufir 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063385	-	PubMed: Fujii 2011	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063386	-	PubMed: Torrelo 2013	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063387	-	PubMed: Wang 2009	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063389	-	PubMed: Aszterbaum 1998	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063390	-	PubMed: Wicking 1997	Sporadic patient RS	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063391	-	PubMed: Smucker 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063393	-	PubMed: Ponti 2013	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063394	-	PubMed: Pruvost-Balland 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063395	-	PubMed: Klein 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063396	-	PubMed: Goetze 2015	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063398	-	PubMed: Reifenberger 2001	-	F	-	-	-	-	-	-	-	BCNS	more than 300 BCCs and multiple keratocysts	PTCH1	PTCH1	1	1	Michel van Geel
00063399	-	PubMed: Chidambaram 1996	Pedigree NBCCS11	-	-	-	white	-	-	-	-	BCNS	BCC in 7 patients, odontogenic keratocysts in 3 patients, palmar and/or plantar pits in 4 patients	PTCH1	PTCH1	1	8	Michel van Geel
00063400	-	PubMed: Pruvost-Balland 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063403	-	PubMed: Barreto 2000	-	M	-	-	-	-	-	-	-	BCNS	multiple keratocysts, and basal cell carcinomas.	PTCH1	PTCH1	1	1	Michel van Geel
00063404	-	PubMed: Boutet 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063405	-	PubMed: Pruvost-Balland 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063407	-	PubMed: Matsuzawa 2006	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063409	-	PubMed: Lench 1997	30-year-old NBCCS female	F	-	-	-	-	-	-	-	BCNS	eleven BCCs	PTCH1	PTCH1	1	1	Michel van Geel
00063410	-	PubMed: Pastorino 2012	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063411	-	PubMed: Nagao 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063413	-	PubMed: Fujii 2011	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063414	-	PubMed: Pastorino 2005	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063415	-	PubMed: Pastorino 2012	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063416	-	PubMed: Shevchenko 2000	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063417	-	PubMed: Savino 2004	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel
00063418	-	PubMed: Fujii 2003	-	-	-	-	-	-	-	-	-	BCNS	-	PTCH1	PTCH1	1	1	Michel van Geel

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Global Variome shared LOVD

SEPN1 (selenoprotein N, 1)