Article
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
Pediatric diabetes - 1 Sept 2013
Elbarbary Nancy S, Tjora Erling, Molnes Janne, Lie Benedicte A, Habib Mohammad A, Salem Mona A, Njølstad Pål Rasmus
Abstract excerpt
The SLC29A3 gene, encoding hENT3, a member of the equilibrative nucleoside transporter family, has recently been found mutated in Faisalabad histiocytosis, pigmented hypertrichotic dermatosis with insulin-dependent diabetes, familial sinus histiocytosis with massive lymphadenopathy (SHML), and H syndromes. We here report clinical and genetic findings of an Egyptian family with H syndrome. We describe two...
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