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Priya, T.P. and Philip, N. and Molho-Pessach, V. and Busa, T. and Dalal, Ashwin and Zlotogorski, A. (2010) H syndrome: novel and recurrent mutations inSLC29A3. British Journal of Dermatology, 162 (5). pp. 1132-1134. ISSN 0007-0963

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Abstract

The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2) Histologically, there is an inflammatory infiltrate consisting mainly of histiocytes, later replaced by fibrosis of the deep dermis and subcutis.(3) In total, 31 patients have been reported in the literature with the clinical phenotype characteristic of this syndrome.(1-7)

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 31 Aug 2015 08:56
Last Modified: 31 Aug 2015 08:56
URI: http://cdfd.sciencecentral.in/id/eprint/418

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