Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Mutations in the TBC1D24 gene are responsible for four neurological presentations: infantile epileptic encephalopathy, infantile myoclonic epilepsy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and NSHL (non-syndromic hearing loss). For the latter, two recessive...

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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: Bakhchane, Amina, Charif, Majida, Salime, Sara, Boulouiz, Redouane, Nahili, Halima, Roky, Rachida, Lenaers, Guy, Barakat, Abdelhamid
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4570774/
https://ncbi.nlm.nih.gov/pubmed/26371875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0138072
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