H Syndrome Presenting with Sinus of Valsalva Aneurysm and Possible Founder Mutation (p.Arg134cys) in Indian Patients
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Reference13 articles.
1. The H syndrome is caused by mutations in the nucleoside transporter hENT3;Molho-Pessach;Am J Hum Genet,2008
2. Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability;Kang;J Biol Chem,2010
3. Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c. 1088G > A mutation in the SLC29A3 gene;Chouk;Hum Genomics,2021
4. H syndrome: The first 79 patients;Molho-Pessach;J Am Acad Dermatol,2014
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1. A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review;BMC Medical Genomics;2024-07-04
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