All individuals with variants in gene FGF10

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00332558 Fam1 PubMed: Entesarian 2005 4-generation family, 12 affected (6F, 6M) F;M no Sweden - - - - - ALSG see paper; ..., irritable eyes, dryness mouth 1 12 Johan den Dunnen
00332559 Fam2 PubMed: Entesarian 2005 3-generation family, 4 qffected (2F, 2M) F;M - Sweden - - - - - ALSG see paper; ..., irritable eyes, dryness mouth 1 4 Johan den Dunnen
00332565 LADD-BoPatIII4 PubMed: Rohmann 2006 3-generation family, 10 affected (5F, 5M) F;M - Germany Turkey - - - - LADD no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism 1 10 Johan den Dunnen
00332567 patient PubMed: Milunksy 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - LADD see paper; ... 1 1 Johan den Dunnen
00332568 Fam2 PubMed: Milunksy 2006 2-generation family, affected, mother/daughter F no United States - - - - - ALSG see paper; ... 1 2 Johan den Dunnen
00332569 Fam1 PubMed: Entesarian 2007 2-generation family, affected fahter/son M - - white - - - - ALSG see paper; ... 2 2 Johan den Dunnen
00332570 Fam2 PubMed: Entesarian 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - ALSG see paper; ... 1 1 Johan den Dunnen
00450521 - - - M no Spain - - - - - LADD esophageal atresia, dextrocardia, hypoplasia of the phalanges of the thumb, lacrimal gland aplasia, xerostomía, pulmonar hipoplasia, scoliosis, madelung deformity, dental caries, generalized periodontitis 1 1 Maria Elena García Paya
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.