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Article

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

Human genetics - 1 Nov 2013

Pohl Esther, Aykut Ayca, Beleggia Filippo, Karaca Emin, Durmaz Burak, Keupp Katharina, Arslan Esra, Palamar Melis, Onay Melis Palamar, Yigit Gökhan, Özkinay Ferda, Wollnik Bernd

Abstract excerpt

Otofaciocervical syndrome (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external ear anomalies with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disabil...

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Source

Identifiers

PMID: 23851939
DOI: 10.1007/s00439-013-1337-9

Genes

PAX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23851939-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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