Concept information
Término preferido
Schwartz-Jampel dwarfism
Definición
- 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)
Concepto genérico
En otras lenguas
-
francés
-
syndrome de Schwartz-Jampel
URI
http://data.loterre.fr/ark:/67375/VH8-ZVR7DTW1-H
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