A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Hereditary congenital facial palsy (HCFP) is a rare congenital cranial dysinnervation disorder, recognisable by non-progressive isolated facial nerve palsy (cranial nerve VII). It is caused by developmental abnormalities of the facial nerve nucleus and its nerve. So far, 4 homozygous mutations have...

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Publicado en:Mol Syndromol
Autores principales: Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Kalantar, Seyed M., Jaafarinia, Mojtaba, Chilton, John, Dehghani, Mohammadreza
Formato: Artigo
Lenguaje:Inglês
Publicado: S. Karger AG 2017
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5582495/
https://ncbi.nlm.nih.gov/pubmed/28878610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000477752
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