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Chaudhary, A.K. and Sankar, V.H. and Bashyam, M.D. (2016) A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia. Journal of Dermatological Science, 84 (1). pp. 105-107. ISSN 0923-1811

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Abstract

Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is caused by mutational inactivation of a developmental signaling pathway responsible for formation of ectodermal tissues. Ectodysplasin, encoded by the longest transcript isoform (EDA-A1) emanating from the EDA gene, initiates the signaling cascade by binding to its cognate receptor (Ectodysplasin receptor) encoded by EDAR. EDAR upon activation binds to its cytoplasmic binding partner viz. EDAR-associated death domain encoded by EDARADD.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 01 Jul 2016 10:23
Last Modified: 04 Apr 2017 10:16
URI: http://cdfd.sciencecentral.in/id/eprint/735

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