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Article

Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome.

Pediatric dermatology - 1 Mar 2020

Shankar Sukesh Gautam, Rangarajan Sudha, Priyadarshini Anuradha, Swaminathan Adikrishnan, Sundaram Murugan

Abstract excerpt

H syndrome (OMIM 6027820) is a novel form of histiocytosis affecting multiple organs with peculiar cutaneous manifestations. It is an autosomal recessive genodermatosis caused by pathogenic mutations in SLC29A3 that encodes the human equilibrative nucleoside transporter, hENT3. The cutaneous manifestations can mimic other sclerodermoid conditions. We present a 15-year-old boy diagnosed with H syndrome with...

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PMID: 31867772
DOI: 10.1111/pde.14075

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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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