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

Informations de copyright

© 2024 The Authors.

Déclaration de conflit d'intérêts

The authors declare no conflict of interest.