A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

INTRODUCTION: Joubert syndrome is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, ocular motor apraxia, and breathing abnormalities. Joubert syndrome is a genetically highly heterogeneous ciliopathy disorder with 23 identified causative genes. The...

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Vydáno v:J Med Case Rep
Hlavní autoři: Chafai-Elalaoui, Siham, Chalon, Matthias, Elkhartoufi, Nadia, Kriouele, Yamna, Mansouri, Maria, Attié-Bitach, Tania, Sefiani, Abdelaziz, Baala, Lekbir
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4635607/
https://ncbi.nlm.nih.gov/pubmed/26541515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-015-0732-3
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