Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene

Abstract Background Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and Familial Rosai–Dorfman disease (RDD...

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Hoofdauteurs:	Hamza Chouk, Mohamed Ben Rejeb, Lobna Boussofara, Haїfa Elmabrouk, Najet Ghariani, Badreddine Sriha, Ali Saad, Dorra H’Mida, Mohamed Denguezli
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	BMC 2021-10-01
Reeks:	Human Genomics
Onderwerpen:	SLC29A3 gene H syndrome Rosai–Dorfman disease Histiocytosis Genodermatosis hENT3
Online toegang:	https://doi.org/10.1186/s40246-021-00362-z
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