Spectrum of Phenotypic Manifestations from a Single Point Mutation of the p63 Gene, Including New Cutaneous and Immunologic Findings
Author:
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1525-1470.2005.00105.x/fullpdf
Reference16 articles.
1. Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.
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3. Hay-Wells Syndrome
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5. Evidence that AEC Syndrome and Bowen–Armstrong Syndrome Are Variable Expressions of the Same Disease
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1. TP63 mutation mapping information in TP63 mutation-associated syndromes;Advances in Oral and Maxillofacial Surgery;2022-01
2. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up;Italian Journal of Pediatrics;2021-09-28
3. Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene;Balkan Journal of Medical Genetics;2020-06-01
4. P63‐related disorders: Dermatological characteristics in 22 patients;Experimental Dermatology;2019-10
5. Ectodermal Dysplasia: Rapp-Hodgkin Syndrome and Hay-Wells Syndrome;Reference Module in Biomedical Sciences;2018
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