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Article

Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.

American journal of medical genetics. Part A - 1 Mar 2009

Barnett C P, Mendoza-Londono R, Blaser S, Gillis J, Dupuis L, Levin A V, Chiang P W, Spector E, Reardon W

Abstract excerpt

A 17-month-old boy was referred with profound sensorineural hearing loss (SNHL), severe visual impairment and developmental delay. Neuroimaging identified hypomyelination and cochlear nerve aplasia. He was noted to have fair skin and hair and multiple areas of cutaneous hyperpigmentation. Previous investigations including karyotype, array comparative genomic hybridization (aCGH) and a full metabolic screen were...

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Share to Abnormalities, Multiple
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sequence Analysis, DNA

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Source

Identifiers

PMID: 19208381
DOI: 10.1002/ajmg.a.32657

Genes

SOX10

Variants

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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Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.PMID 19208381Read ↗

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