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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 f...

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Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20199539-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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