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Article

Xq26.3 microdeletion in a male with Wildervanck Syndrome.

Ophthalmic genetics - 1 Mar 2014

Abu-Amero Khaled K, Kondkar Altaf A, Alorainy Ibrahim A, Khan Arif O, Al-Enazy Leila A, Oystreck Darren T, Bosley Thomas M

Abstract excerpt

BACKGROUND: Wildervanck Syndrome (WS; cervico-oculo-acoustic syndrome) consists of Duane retraction syndrome (DRS), the Klippel-Feil anomaly, and congenital deafness. It is much more common in females than males and could be due to an X-linked mutation that is lethal to hemizygous males. We present the genetic evaluation of a male with WS and his family. MATERIALS AND METHODS: Clinical evaluation and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

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Source

Identifiers

PMID: 23373430
DOI: 10.3109/13816810.2013.766218

Genes

FGF13
CHN1
HOXA1
SALL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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