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Article

Early-onset sensorineural hearing loss is a prominent feature of H syndrome.

International journal of pediatric otorhinolaryngology - 1 Jul 2010

Ramot Yuval, Sayama Koji, Sheffer Ruth, Doviner Victoria, Hiller Nurith, Kaufmann-Yehezkely Michal, Zlotogorski Abraham

Abstract excerpt

This case report describes two patients with H syndrome, a multisystemic autosomal recessive disorder, caused by mutations in the SLC29A3 gene. It is characterized by cutaneous hyperpigmentation, camptodactyly or flexion contractures and other features, among them hearing loss. The two patients had hearing loss as their presenting symptom, and had mutations in SLC29A3, one of them a novel mutation. The aim of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20399510
DOI: 10.1016/j.ijporl.2010.03.053

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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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