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Article

Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27).

International journal of pediatric otorhinolaryngology - 1 Sept 2013

Schindler A, Guazzarotti L, Mameli C, Urbani E, Mozzanica F, Guerrini L, Zuccotti G V

Abstract excerpt

The congenital vomer defect (CVD) is a rare and still partially unknown condition. Only few cases have been reported in the international literature and the large majority of them appeared to be isolated. We report a case of CVD detected in a 7-year-old girl affected by ectodermal dysplasia cleft...

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Source

Identifiers

PMID: 23906991
DOI: 10.1016/j.ijporl.2013.06.027

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23906991-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27).PMID 23906991Read ↗

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

EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report.Semantic proximity Read ↗

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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.Semantic proximity Read ↗

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