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bn:15080678n
Noun Concept
FR
syndrome de Schwartz-Jampel  Dysplasie squelettique de Burton
EN
Schwartz–Jampel syndrome is a rare genetic disease caused by a mutation in the perlecan gene which causes osteochondrodysplasia associated with myotonia. Wikipedia
Relations
Sources
IS A
maladie rare
myotonie congénitale
syndrome
ostéochondrodysplasie
maladie à transmission autosomique récessive
GENETIC ASSOCIATION
perlécan
HEALTH SPECIALTY
neurologie
Wikidata
FR
syndrome de Schwartz-Jampel
Wikidata Alias
FR
Dysplasie squelettique de Burton

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