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Article

The H syndrome is caused by mutations in the nucleoside transporter hENT3.

American journal of human genetics - 1 Oct 2008

Molho-Pessach Vered, Lerer Israela, Abeliovich Dvorah, Agha Ziad, Abu Libdeh Abdulasalam, Broshtilova Valentina, Elpeleg Orly, Zlotogorski Abraham

Abstract excerpt

The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interph...

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Share to Homozygote
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18940313
DOI: 10.1016/j.ajhg.2008.09.013
PMCID: PMC2561939

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18940313-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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The H syndrome is caused by mutations in the nucleoside transporter hENT3.PMID 18940313Read ↗

Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome.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 ↗

Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.Semantic proximity Read ↗

Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.Semantic proximity Read ↗

Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H Syndrome: The first case report from SyriaSemantic proximity Read ↗

Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.Semantic proximity Read ↗

Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.Semantic proximity Read ↗

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

Expanding the clinical spectrum of SLC29A3 gene defects.Semantic proximity Read ↗

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

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