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