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A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.

Acta dermato-venereologica - 1 Jan 2019

Niculescu Luana, Wagner Matias, Westphal Dominik S, Fischer Marcus, Mihatsch Walter, Prothmann Anke, Ruzicka Thomas, Wollenberg Andreas, Wolff Hans, Schmidt Heinrich, Giehl Kathrin A

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PMID: 29956718
DOI: 10.2340/00015555-2997

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A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.PMID 29956718Read ↗

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-upSemantic proximity Read ↗

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.Semantic proximity Read ↗

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.Semantic proximity Read ↗

Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.Semantic proximity Read ↗

Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation--Expanding the Phenotypic Spectrum.Semantic proximity Read ↗

A newborn with overlapping features of AEC and EEC syndromes.Semantic proximity Read ↗

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.Semantic proximity Read ↗

Isoform-Specific Roles of Mutant p63 in Human DiseasesSemantic proximity Read ↗

Modeling AEC-New approaches to study rare genetic disorders.Semantic proximity Read ↗

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.Semantic proximity Read ↗

Clinical lessons learned from the International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.Semantic proximity Read ↗

Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.Semantic proximity Read ↗

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