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Article

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

Archives of oral biology - 1 Jul 2018

Barbato Ersilia, Traversa Alice, Guarnieri Rosanna, Giovannetti Agnese, Genovesi Maria Luce, Magliozzi Maria Rosa, Paolacci Stefano, Ciolfi Andrea, Pizzi Simone, Di Giorgio Roberto, Tartaglia Marco, Pizzuti Antonio, Caputo Viviana

Abstract excerpt

OBJECTIVE: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by incomplete penetrance and variable expressivity. DESIGN: Clinical standardized assessment of 14 family members and a whole-exome sequencing (WES) of three...

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Identifiers

PMID: 29705498
DOI: 10.1016/j.archoralbio.2018.04.011

Genes

EDA
EDARADD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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