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Article

X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.

American journal of audiology - 1 Mar 2014

Anger Gregory J, Crocker Susan, McKenzie Kyle, Brown Kerry K, Morton Cynthia C, Harrison Karen, MacKenzie Jennifer J

Abstract excerpt

PURPOSE: The authors report on a 7-year-old male, designated FR, who has severe sensorineural hearing loss. Features include a round face, hypertelorism, epicanthal folds, and flat nasal root. Although there were early developmental concerns regarding FR, all but his speech delay resolved when he was placed in an educational program that accommodated his hearing loss. Genetic studies were performed to investigate...

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Share to Chromosome Inversion
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24096866
DOI: 10.1044/1059-0889(2013/13-0018)
PMCID: PMC4644427

Genes

FMR1
GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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