Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
Brent J DoolanNesrin S GomaaMohamed M FawzyNoha N DogheimLu LiuJemima E MellerioAlexandros OnoufriadisJohn A McGrathPublished in: Experimental dermatology (2020)
These data expand the molecular basis of EDSF syndrome and help define the spectrum of both the prototypic and variable manifestations of this desmosomal genodermatosis.