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Article

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Journal of human genetics - 1 Dec 2013

Siddiqi Saima, Siddiq Saadat, Mansoor Atika, Oostrik Jaap, Ahmad Nafees, Kazmi Syed Ali Raza, Kremer Hannie, Qamar Raheel, Schraders Margit

Abstract excerpt

Bjørnstad syndrome is an extremely rare condition characterized by pilitorti and nerve deafness. Only few large families have been reported worldwide. Here we describe a large Pakistani family with five affected individuals. The hair fibers of all the patients were twisted around their axis and devoid of any pigment. In addition the patients had a moderate-to-severe degree of hearing impairment. Genotyping with...

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PMID: 24172246
DOI: 10.1038/jhg.2013.101

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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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