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Article

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

European journal of human genetics : EJHG - 1 Aug 2006

Rinne Tuula, Spadoni Emanuela, Kjaer Klaus W, Danesino Cesare, Larizza Daniela, Kock Marianne, Huoponen Kirsi, Savontaus Marja-Liisa, Aaltonen Markku, Duijf Pascal, Brunner Han G, Penttinen Maila, van Bokhoven Hans

Abstract excerpt

The ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth, OMIM 103285) is a rare ectodermal dysplasia associated with limb malformations and caused by heterozygous mutations in p63. ADULT syndrome has clinical overlap with other p63 mutation syndromes, such as EEC (OMIM 604292), LMS (OMIM 603543), AEC (106260), RHS (129400) and SHFM4 (605289). ADULT syndrome characteristics are ectrodactyly, ectodermal dysplasia,...

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Identifiers

PMID: 16724007
DOI: 10.1038/sj.ejhg.5201640

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Related research

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Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.PMID 16724007Read ↗

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63Semantic proximity Read ↗

Ectodermal dysplasias: the p63 tail.Semantic proximity Read ↗

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

Further phenotypic and genetic variation in ADULT syndrome.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 ↗

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

EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.Semantic proximity Read ↗

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

Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome.Semantic proximity Read ↗

TP63 gene mutation in ADULT syndrome.Semantic proximity Read ↗

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

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