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Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia. Two types have been recognised: the classical type with late infantile or childhood manifestation and a rarer form with neonatal manifestation. We report five families with a total of 11 ch...

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Detalhes bibliográficos
Main Authors: Al-Gazali, L I, Varghese, M, Varady, E, Al Talabani, J, Scorer, J, Bakalinova, D
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051868/
https://ncbi.nlm.nih.gov/pubmed/8728692
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