title: Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.
authors.forename: J
authors.initials: J
authors.lastname: Faber
authors.forename: A
authors.initials: A
authors.lastname: Winterpacht
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: W
authors.initials: W
authors.lastname: Gnoinski
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
mesh_terms: 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
chemical_list: D003094:Collagen