Article
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
The British journal of dermatology - 1 Apr 2012
Bashyam M D, Chaudhary A K, Reddy E C, Reddy V, Acharya V, Nagarajaram H A, Devi A R R, Bashyam L, Dalal A B, Gupta N, Kabra M, Agarwal M, Phadke S R, Tainwala R, Kumar R, Hariharan S V
Abstract excerpt
BACKGROUND: Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare Mendelian disorder affecting ectodermal tissues. The disease is primarily caused by inactivation of any one of three genes, namely ectodysplasin A1 (EDA-A1), which encodes a ligand belonging to the tumour necrosis factor (TNF) superfamily; ectodysplasin A receptor (EDAR), encoding the EDA-A1 receptor and ectodysplasin A receptor-associated...
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