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Article

H syndrome: the first 79 patients.

Journal of the American Academy of Dermatology - 1 Jan 2014

Molho-Pessach Vered, Ramot Yuval, Camille Frances, Doviner Victoria, Babay Sofia, Luis Siekavizza Juan, Broshtilova Valentina, Zlotogorski Abraham

Abstract excerpt

BACKGROUND: H syndrome is an autosomal recessive genodermatosis with multisystem involvement caused by mutations in SLC29A3. OBJECTIVE: We sought to investigate the clinical and molecular findings in 79 patients with this disorder. METHODS: A total of 79 patients were included, of which 13 are newly reported cases. Because of the phenotypic similarity and molecular overlap with H syndrome, we included 18 patients...

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Identifiers

PMID: 24172204
DOI: 10.1016/j.jaad.2013.09.019

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

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