Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.

European journal of medical genetics - 1 Jan 2012

Jonard Laurence, Couloigner Vincent, Pierrot Sébastien, Louha Malek, Gherbi Souad, Denoyelle Françoise, Marlin Sandrine

Abstract excerpt

In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome. The major features encountered in H syndrome are Hearing loss, Hyperglycaemia, Heart anomalies, Hypertrichosis, Hyperpigmentation, Hepatomegaly and Hypogonadism. More recently, SLC29A3 mutations have been described in families presenting syndromes associating generalized histiocytosis to systemic progressive features: severe...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Homozygote

Share to Mutation, Missense

Share to Nucleoside Transport Proteins

Share to Phenotype

Source

Identifiers

PMID: 21888995
DOI: 10.1016/j.ejmg.2011.06.009

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.PMID 21888995Read ↗

H syndrome: the first 79 patients.Semantic proximity Read ↗

Early-onset sensorineural hearing loss is a prominent feature of H syndrome.Semantic proximity Read ↗

H syndrome: novel and recurrent mutations in SLC29A3.Semantic proximity Read ↗

H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.Semantic proximity Read ↗

H syndrome with a novel homozygous SLC29A3 mutation in two sisters.Semantic proximity Read ↗

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.Semantic proximity Read ↗

[H syndrome: First reported paediatric case in Latin America].Semantic proximity Read ↗

A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literatureSemantic proximity Read ↗

'H-syndrome': a multisystem genetic disorder with cutaneous clues.Semantic proximity Read ↗

H syndrome: A review of treatment options and a hypothesis of phenotypic variability.Semantic proximity Read ↗

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.Semantic proximity Read ↗

An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.