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Article

A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.

The American Journal of dermatopathology - 1 Feb 2011

Avitan-Hersh Emily, Mandel Hanna, Indelman Margarita, Bar-Joseph Gad, Zlotogorski Abraham, Bergman Reuven

Abstract excerpt

H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin and systemic manifestations including hepatosplenomegaly, cardiac anomalies, hearing loss, hypogonadism, low height, hypertriglyceridemia, hallux valgus, and flexion contractures. H syndrome results from mutations in the SLC29A3 gene, which encodes the human...

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Share to Leukocytes, Mononuclear
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21178579
DOI: 10.1097/DAD.0b013e3181ee547c

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.PMID 21178579Read ↗

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