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Article

H syndrome with a novel homozygous SLC29A3 mutation in two sisters.

Pediatric dermatology - 1 Nov 2020

Demir Damla, Aktaş Karabay Ezgi, Sözeri Betül, Gürsoy Fatıma, Akgün Doğan Özlem, Topaktaş Eylem, Zindancı İlkin

Abstract excerpt

H syndrome (OMIM 602782) is a recently defined autosomal recessive genodermatosis. Cutaneous findings of H syndrome include hyperpigmentation, hypertrichosis, and induration, while hearing loss, heart anomalies, hepatomegaly, hypogonadism, hyperglycemia (diabetes mellitus), low height (short stature), hallux valgus (flexion contractures), and hematological abnormalities are the extracutaneous abnormalities. We...

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PMID: 32776596
DOI: 10.1111/pde.14322

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