title: 102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands.
authors.affiliation: INSERM U546, Faculté de Médecine Pitié-Salpêtriére, Paris, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Nicole
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloglu
authors.forename: Bertrand
authors.initials: B
authors.lastname: Fontaine
mesh_terms: D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*