Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.
Faber
J
J
Winterpacht
A
A
Zabel
B
B
Gnoinski
W
W
Schinzel
A
A
Steinmann
B
B
Superti-Furga
A
A
D002675:Child, Preschool; D003094:Collagen / Q000235:genetics*; D003095:Collagen Diseases / Q000235:genetics* / Q000503:physiopathology; D005091:Exons / Q000235:genetics; D005260:Female; D005413:Flatfoot / Q000209:etiology; D006801:Humans; D009154:Mutation; D063173:Retrognathia / Q000209:etiology; D013577:Syndrome
D003094:Collagen