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Aggarwal, Shagun and Coutinho, M.F. and Dalal, Ashwin and Jain, S.J.M.N. and Prata, M.J. and Alves, S. (2014) Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation. Gene, 542 (2). pp. 266-268. ISSN 1879-0038

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Abstract

We report a neonate who was diagnosed as a case of skeletal dysplasia during pregnancy, and was subsequently diagnosed as a case of MLII alpha/beta on the basis of clinical and radiological findings and molecular testing of the parents. A novel GNPTAB mutation c.1701delC [p.F566LfsX5] was identified in the father. The case reiterates the severe prenatal phenotype of MLII alpha/beta which mimics skeletal dysplasia and illustrates the utility of molecular genetic analysis in confirmation of diagnosis and subsequent genetic counselling.

Item Type: Article
Subjects: Genetics
Developmental Biology
Molecular Biology
Depositing User: Dr P Divakar
Date Deposited: 18 May 2015 12:02
Last Modified: 12 Oct 2015 09:22
URI: http://cdfd.sciencecentral.in/id/eprint/56

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