Concept information
Preferred term
Schwartz-Jampel dwarfism
Definition
- Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) which causes osteochondrodysplasia associated with myotonia. (Wikipedia)
Broader concept
In other languages
-
French
-
syndrome de Schwartz-Jampel
URI
http://data.loterre.fr/ark:/67375/VH8-ZVR7DTW1-H
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