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Article

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

Current research in translational medicine - 1 Jan 2000

Bakhchane A, Kindil Z, Charoute H, Benchikhi K, Khadir K, Nadifi S, Baline K, Roky R, Barakat A

Abstract excerpt

H syndrome is an autosomal recessive syndrome, which affects the skin and some vital organs, it is caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter hENT3. This report describes a patient with typical features of H syndrome. Based on the patient's clinical features, SLC29A3 was selected for molecular investigation. Through direct sequencing, a compound heterozygous...

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

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Identifiers

PMID: 27316388
DOI: 10.1016/j.retram.2016.01.008

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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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Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.PMID 27316388Read ↗

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