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Article

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.

Brain & development - 1 Feb 2017

Sahin Yavuz, Güngör Olcay, Ayaz Akif, Güngör Gülay, Sahin Bedia, Yaykasli Kursad, Ceylaner Serdar

Abstract excerpt

Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large consanguineous Turkish family. High-throughput sequencing and Sanger...

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Source

Identifiers

PMID: 27640920
DOI: 10.1016/j.braindev.2016.09.002

Genes

HOXB1

Variants

Provenance

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