Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. This disease is caused by biallelic loss of function mutations in the HSPG2 gene, which encodes the core protein of perlecan. This study aims to investigate causat...

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Principais autores:	Iman Elahi Vahed, Sahand Tehrani Fateh, Melika Kamali, Farzad Hashemi-Gorji, Zahra Esmaeilzadeh, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi
Formato:	Artigo
Idioma:	Inglês
Publicado:	Elsevier 2024-09-01
Series:	Molecular Genetics and Metabolism Reports
Assuntos:	Schwartz-Jampel syndrome HSPG2 Whole exome sequencing
Acceso en liña:	http://www.sciencedirect.com/science/article/pii/S2214426924000788
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