Molecular Modeling Analysis Provides Genotype–Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder. AEC is caused by mutations in the TP63 gene that encodes the tumor suppressor p63 protein, itself involved in the regulation of epidermal proliferation, development, and differentiation. We pres...

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Detalles Bibliográficos
Autores principales: Douka, Anna, Goutzanis, Lambros, Vlachakis, Dimitrios, Chrousos, George P., Yapijakis, Christos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298433/
https://www.ncbi.nlm.nih.gov/pubmed/37372427
http://dx.doi.org/10.3390/genes14061246

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