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Article

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

American journal of medical genetics. Part A - 1 Jul 2016

Vogel Markus, Velleuer Eunike, Schmidt-Jiménez Leon F, Mayatepek Ertan, Borkhardt Arndt, Alawi Malik, Kutsche Kerstin, Kortüm Fanny

Abstract excerpt

Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been...

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Identifiers

PMID: 27144914
DOI: 10.1002/ajmg.a.37682

Genes

HOXB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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