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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Hlavní autoři: Akhondian, Javad, Ashrafzadeh, Farah, Beiraghi Toosi, Mehran, Moazen, Nasrin, Mohammadpoor, Toktam, Karami, Reza
Médium: Artigo
Jazyk:Inglês
Vydáno: Shahid Beheshti University of Medical Sciences 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943079/
https://ncbi.nlm.nih.gov/pubmed/24665289
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