• A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders
• A Human Stem Cell-Based System to Study the Role of TP63 Mutations in Ectodermal Dysplasias
• A neonate with denuded skin: Hay-Wells syndrome
• A newborn with overlapping features of AEC and EEC syndromes
• A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes
• A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene
• A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene
• A rare variant of ankyloblepharon filiforme adnatum associated with skin hypopigmentation: A case report from South India
• A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
• AEC syndrome: ankyloblepharon, ectodermal defect, cleft lip and palate (Hay-Wells syndrome)
• AMPK activation improves recovery from pneumonia-induced lung injury via reduction of er-stress and apoptosis in alveolar epithelial cells
• An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology
• Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts
• Ankyloblepharon filiforme adnatum
• Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the <em>TP63</em> Gene
• Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews
• Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules
• Ankyloblepharon-ectodermal dysplasia-clefting syndrome
• Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work
• Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions
• Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations
• Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin
• Case report: unusual dental morphology in a child with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
• Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome
• Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene
• Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation
• Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients
• Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
• Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias
• Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis
• Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome
• Ectodermal dysplasia, Hay-Wells type
• Ectodermal dysplasias associated with clefting: significance of scalp dermatitis
• Effects of TP63 mutations on keratinocyte adhesion and migration
• Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome
• Expanding the genetic profile of Hay-Wells syndrome
• Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins
• Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes
• Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
• Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome
• Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63
• Hay-Wells syndrome
• Hay-Wells syndrome (AEC): a case report
• Hay-Wells syndrome in a child with mutation in the TP73L gene
• Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
• Hay-wells syndrome of ectodermal dysplasia
• Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder
• Hay-Wells syndrome: a case report
• Hay-Wells syndrome: A case report
• Hay-Wells Syndrome: the challenges of a nine-year follow-up
• Head and neck manifestations of Hay-Wells syndrome
• High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia
• Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases
• International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome
• Light microscopic hair shaft analysis in ectodermal dysplasia syndromes
• Low-frequency, therapeutic ultrasound treatment for congenital ectodermal dysplasia in toddlers
• Modeling AEC-New approaches to study rare genetic disorders
• Molecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome
• Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome
• Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
• Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
• 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
• Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome
• Otologic manifestations of ectodermal dysplasia
• Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant
• P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome
• p63 and FGFR: when development meets proliferation
• p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome
• Pili torti et canaliculi in ectodermal dysplasia
• Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution
• Psychosocial functioning and quality of life in children and families affected by AEC syndrome
• Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder
• Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome
• Rapp-Hodgkin syndrome and the tail of p63
• Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome
• Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant
• Renal failure in Hay-Wells syndrome
• Scalp erosion in ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC syndrome): treatment with acellular dermal matrix
• Severe skin erosions and scalp infections in AEC syndrome
• Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome
• Special AT-rich binding protein-2 (SATB2) differentially affects disease-causing p63 mutant proteins
• Structural basis of p63α SAM domain mutants involved in AEC syndrome
• Sweating ability of patients with p63-associated syndromes
• Syndrome in question. Hay-Wells syndrome
• The Delta Np63 alpha phosphoprotein binds the p21 and 14-3-3 sigma promoters in vivo and has transcriptional repressor activity that is reduced by Hay-Wells syndrome-derived mutations
• The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity
• The Hay-Wells syndrome, its incidence in Spain and a review of the literature
• Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders
• TP63-related disorders: two case reports and a brief review of the literature
• Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?
• Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
• What syndrome is this? Ankyloblepharon-ectodermal defects--cleft lip and palate (Hay-Wells) syndrome