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Deshpande, R. and Parthasarathy, L. and Dalal, Ashwin and Khadilkar, V. and Khadilkar, A. (2016) Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome. The Indian Journal of Pediatrics, 83 (1). pp. 92-93. ISSN 0019-5456

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H syndrome, hallmarked by hyperpigmentation and hypertrichosis is a constellation of BH^s resulting from homozygous mutations in SLC29A3 gene (OMIM 612391) [1–3]. We report a 14-y-old boy, diagnosed with H syndrome; case highlights variability in manifestations of the syndrome and evolution of symptoms over 10 y.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 21 Sep 2015 10:21
Last Modified: 21 Jul 2017 09:33
URI: http://cdfd.sciencecentral.in/id/eprint/531

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