33 citations,
May 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
Controlling Tslp can improve health in AEC syndrome patients.
January 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
25 citations,
October 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
March 2024 in “Birth defects research” The commentary stresses the importance of using historical control data and proper interpretation in evaluating developmental toxicity.