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The Schwartz-Jampel syndrome: Case report and review of literature

Schwartz-Jampel syndrome (SJS), first described in the United States in 1962, is a hereditary disorder characterized by facial dysmorphism and muscle stiffness. We describe the first case of a Persian 9-year-old boy with SJS and review the literature. The child had a short neck, blepharophimosis, fl...

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Detalles Bibliográficos
Autores principales: Basiri, Keivan, Fatehi, Farzad, Katirji, Bashar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581134/
https://www.ncbi.nlm.nih.gov/pubmed/26436077
http://dx.doi.org/10.4103/2277-9175.162538