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Article

H syndrome: novel and recurrent mutations in SLC29A3.

The British journal of dermatology - 1 May 2010

Priya T P, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A

Abstract excerpt

The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2) Histologically, there is an inflammatory infiltrate consisting...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20199539
DOI: 10.1111/j.1365-2133.2010.09653.x

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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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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

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

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

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

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