Two Alabama families are working together to fight for their children and raise awareness about a rare disease.

Genetic mapping of the differences in patterns of ectodermal appendages between mouse strains as well as functional modulation of expression levels, implicate the transcription factor En1 as a ...

Ectodermal Dysplasias is a rare genetic condition, where things like skin hair and teeth don't develop properly.

We describe mutations in the puta-tive zinc-finger domain of NEMO that result in an X-linked primary immunodeficiency characterized by hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (XHM ...

The ectodermal edges then fuse over the urethra to fashion the penile shaft skin, leaving behind the median raphe [13] (Fig 2).