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Chaudhary, A.K. and Girisha, K.M. and Bashyam, M.D. (2016) A novel EDARADD5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. American Journal of Medical Genetics Part A, 170 (6). pp. 1639-1641. ISSN 1552-4825

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Abstract

The study has identified for the first time an EDARADD splice site mutation causing autosomal recessive HED. Using an ex vivo minigene-based strategy, we detected two aberrant transcripts generated due to activation of distinct alternate 5'-splice sites. The study expands the catalogue of EDARADD mutations causing HED. Since the various forms of HED are clinically indistinguishable, genetic testing is required to facilitate screening, prenatal diagnosis and risk assessment in affected families.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 21 Mar 2016 04:13
Last Modified: 19 May 2016 06:33
URI: http://cdfd.sciencecentral.in/id/eprint/709

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