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Article

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

Chinese medical journal - 20 May 2015

Liu Jia-Wei, Si Nuo, Wang Lian-Qing, Shen Ti, Zeng Xue-Jun, Zhang Xue, Ma Dong-Lai

Abstract excerpt

BACKGROUND: H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin, as well as other systemic manifestations. Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India. The syndrome is caused by mutations in solute carrier family 29, member 3 (SLC29A3), the gene encoding...

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Identifiers

PMID: 25963354
DOI: 10.4103/0366-6999.156778
PMCID: PMC4830313

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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