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"Hay–Wells syndrome"




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photo Hay–Wells syndrome

Hay–Wells syndrome

Disease

Hay–Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of ectodermal dysplasia.:571These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.Hay–Wells syndrome is autosomal dominant, caused by a missense mutation in the Sterile alpha motif (SAM) of the TP73L (p63) gene which encodes for a protein-protein...More