Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome in a Moroccan Family: A Literature Review

Schwartz–Jampel syndrome type 1 (SJS1) is a rare autosomal recessive musculoskeletal disorder caused by various mutations in the HSPG2 gene encoding the protein perlecan, a major component of basement membranes. We report a novel splice mutation HSPG2(NM_005529.7):c.3888 + 1G > A and a known poin...

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Detalles Bibliográficos
Autores principales: Brugnoni, Raffaella, Marelli, Daria, Iacomino, Nicola, Canioni, Eleonora, Cappelletti, Cristina, Maggi, Lorenzo, Ardissone, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531088/
https://www.ncbi.nlm.nih.gov/pubmed/37761893
http://dx.doi.org/10.3390/genes14091753

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531088/
https://www.ncbi.nlm.nih.gov/pubmed/37761893
http://dx.doi.org/10.3390/genes14091753

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