Joubert Syndrome in Three Children in A Family: A Case Series

Joubert syndrome (JS) is a rare autosomal recessive central nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features. Here, we describe three children w...

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Detalles Bibliográficos
Autores principales: Akhondian, Javad, Ashrafzadeh, Farah, Beiraghi Toosi, Mehran, Moazen, Nasrin, Mohammadpoor, Toktam, Karami, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943079/
https://www.ncbi.nlm.nih.gov/pubmed/24665289

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