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

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). Herei...

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Detalles Bibliográficos
Autores principales: Chouk, Hamza, Ben Rejeb, Mohamed, Boussofara, Lobna, Elmabrouk, Haїfa, Ghariani, Najet, Sriha, Badreddine, Saad, Ali, H’Mida, Dorra, Denguezli, Mohamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522101/
https://www.ncbi.nlm.nih.gov/pubmed/34657628
http://dx.doi.org/10.1186/s40246-021-00362-z

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