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Article

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

Dermatology online journal - 15 Nov 2021

Nanda Arti, AlLafi Atlal, Wolf Sabrina, AlMasry Iman M, Betz Regina

Abstract excerpt

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...

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Identifiers

PMID: 35130400
DOI: 10.5070/D3271156088

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Related research

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TP63-related disorders: two case reports and a brief review of the literature.PMID 35130400Read ↗

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

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.Semantic proximity Read ↗

A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.Semantic proximity Read ↗

p63-associated disorders.Semantic proximity Read ↗

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.Semantic proximity Read ↗

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations.Semantic proximity Read ↗

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

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.Semantic proximity Read ↗

Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.Semantic proximity Read ↗

TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes.Semantic proximity Read ↗

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

Pattern of p63 mutations and their phenotypes--update.Semantic proximity Read ↗

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