A Novel Pathogenic HSPG2 Mutation in Schwartz–Jampel Syndrome

Schwartz–Jampel syndrome is a rare autosomal recessive disease caused by mutation in the heparan sulfate proteoglycan 2 (HSPG2) gene. Its cardinal symptoms are skeletal dysplasia and neuromuscular hyperactivity. Herein, we identified a new pathogenic mutation site (NM_005529.6:c.1125C>G; p.Cys375...

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Detalles Bibliográficos
Autores principales: Lin, Po-Yu, Hung, Jia-Horung, Hsu, Chao-Kai, Chang, Yao-Tsung, Sun, Yuan-Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7985266/
https://www.ncbi.nlm.nih.gov/pubmed/33767660
http://dx.doi.org/10.3389/fneur.2021.632336

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7985266/
https://www.ncbi.nlm.nih.gov/pubmed/33767660
http://dx.doi.org/10.3389/fneur.2021.632336

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