102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands
Neuromuscul Disord
.
2003 May;13(4):347-51.
doi: 10.1016/s0960-8966(02)00272-9.
Authors
Sophie Nicole
1
,
Haluk Topaloglu
,
Bertrand Fontaine
Affiliation
1
INSERM U546, Faculté de Médecine Pitié-Salpêtriére, Paris, France.
PMID:
12868505
DOI:
10.1016/s0960-8966(02)00272-9
No abstract available
Publication types
Congress
Research Support, Non-U.S. Gov't
MeSH terms
Humans
Mutation*
Osteochondrodysplasias / diagnosis
Osteochondrodysplasias / genetics*
Osteochondrodysplasias / physiopathology*