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 / 113 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 Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
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