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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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Detalles Bibliográficos
Autores principales: BARZEGAR, Mohammad, MALAKI, Majid, SADEGI-HOKMABADI, Elyar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943034/
https://www.ncbi.nlm.nih.gov/pubmed/24665296