Article
Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.
Cytogenetic and genome research - 1 Jan 2017
Vural Seçil, Ertop Pelin, Durmaz Ceren D, Şanlı Hatice, Okçu Heper Aylin, Kundakçı Nihal, Karabulut Halil G, Ilgın Ruhi Hatice
Abstract excerpt
H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle...
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