TP63-related disorders: two case reports and a brief review of the literature

Autor:	Arti Nanda, Atlal AlLafi, Sabrina Wolf, Iman M AlMasry, Regina Betz
Rok vydání:	2022
Předmět:	Heterozygote Genotype Cleft Lip Tumor Suppressor Proteins Infant Newborn Eyelids Dermatology General Medicine Syndrome Cleft Palate Phenotype Ectodermal Dysplasia Intellectual Disability Photography Humans Female Eye Abnormalities Syndactyly Child Transcription Factors
Zdroj:	Dermatology online journal. 27(11)
ISSN:	1087-2108
Popis:	TP63-related disorders comprise a group of six overlapping autosomal dominant (AD) syndromes caused by heterozygous pathogenic variants in the tumor protein p63 gene (TP63). The present report describes the identification of heterozygous de novo pathogenic variants in the DNA binding domain (DBD) of the TP63 gene in two patients diagnosed with Ectodermal dysplasia-Ectrodactyly-Cleft lip/palate syndrome three (EEC3) and Ankyloblepharon-Ectodermal defects-Cleft lip/palate syndrome (AEC), respectively. The report discusses the phenotypic and genotypic characteristics of these patients and provides a brief review of the TP63-related disorder literature.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e31d4524704a312d82a436c60ce305d https://pubmed.ncbi.nlm.nih.gov/35130400 Zobrazit plný text záznamu