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Article

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.

American journal of medical genetics. Part A - 1 Nov 2011

Prontera Paolo, Garelli Emanuela, Isidori Ilenia, Mencarelli Amedea, Carando Adriana, Silengo Margherita Cirillo, Donti Emilio

Abstract excerpt

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these d...

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Source

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PMID: 21990121
DOI: 10.1002/ajmg.a.34270

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21990121-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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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.PMID 21990121Read ↗

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 ↗

ADULT syndrome due to an R243W mutation in TP63.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 ↗

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

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

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

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

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