A recent study published in Genes & Diseases explores the clinical implications of loss-of-function mutations in IKBKG/NEMO, a key regulator in the ...

Hypohydrotic ectodermal dysplasia (HED) can result from mutations in the downless gene (DL) or the ectodysplasin gene (ED1, also called EDA) and is characterized by the absence, or hypoplasia, of ...