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

American journal of medical genetics. Part A - 1 Jun 2016

Chacon-Camacho Oscar Francisco, Fuerte-Flores Bertha Irene, Zenteno Juan Carlos

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PMID: 27028492
DOI: 10.1002/ajmg.a.37642

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TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes.PMID 27028492Read ↗

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.Semantic proximity Read ↗

ADULT syndrome due to an R243W mutation in TP63.Semantic proximity Read ↗

Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.Semantic proximity Read ↗

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.Semantic proximity Read ↗

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.Semantic proximity Read ↗

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

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

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.Semantic proximity Read ↗

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

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC SyndromeSemantic proximity Read ↗

TP63 gene mutation in ADULT syndrome.Semantic proximity Read ↗

Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.Semantic proximity Read ↗

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