Schwartz-Jampel syndrome: Report of five cases

Autor: Adriana Ávila de Espíndola, Mary S. Carvalho, Rubens Reimão, Fernando Kok, Maria B. D. Resende, L. G. Ferreira, Aron J. Diament, Umbertina Conti Reed, Suely Kazue Nagahashi Marie, T. R. C. Messias, Milberto Scaff

Publikováno v: ResearcherID
Arquivos de Neuro-Psiquiatria, Vol 60, Iss 3B, Pp 734-738 (2002)
Arquivos de Neuro-Psiquiatria v.60 n.3B 2002
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Volume: 60, Issue: 3B, Pages: 734-738, Published: SEP 2002

We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its

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