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

2021-07-13

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<title>Abstract</title> <p>Background: Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, has been implicated in syndromic forms of Histiocytosis including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and Familial Rosai Dorfman disease (RDD). Herein, we report five new patients from a single family who present with phenotypes that assoc...

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Literature Corpus work: a2fc9cec-dc8c-5769-b9e6-c7d711148865
DOI: 10.21203/rs.3.rs-383628/v2

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Phenotypic intrafamilial variability including H syndrome and Rosai Dorfman Disease associated with the same c.1088G>A mutation in the SLC29A3 gene.DOI 10.21203/rs.3.rs-383628/v2Read

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Phenotypic intrafamilial variability including H syndrome and Rosai Dorfman Disease associated with the same c.1088G&gt;A mutation in the SLC29A3 gene.

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