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Joubert Syndrome with Variable Features: Presentation of Two Cases

Joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. We present two cases of this syndrome with different phenotypes. The first case was an 8-month-old girl with hypotonia, apnea,...

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Detalhes bibliográficos
Main Authors: BARZEGAR, Mohammad, MALAKI, Majid, SADEGI-HOKMABADI, Elyar
Formato: Artigo
Idioma:Inglês
Publicado em: Shahid Beheshti University of Medical Sciences 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943034/
https://ncbi.nlm.nih.gov/pubmed/24665296
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