research Mutations In AEC Syndrome Skin Reveal A Role For p63 In Basement Membrane Adhesion, Skin Barrier Integrity And Hair Follicle Biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
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5 / 132 resultsresearch Characterization of an Autoimmune Condition Associated with AEC Syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome: Surgical and Medical Management in an Infant with Bilateral Corneal Perforations
Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
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