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Article

Novel EDAR mutation in tooth agenesis and variable associated features.

European journal of medical genetics - 1 Sept 2020

Mumtaz Sara, Nalbant Gökhan, Yıldız Bölükbaşı Esra, Huma Zele, Ahmad Nafees, Tolun Aslıhan, Malik Sajid

Abstract excerpt

Tooth agenesis (TA) is the developmental absence of one or more permanent teeth. We report on 10 members of a Pakistani family afflicted with TA with variable associated features inherited in autosomal dominant fashion with full penetrance. The malformation is bilateral in the majority of cases, and hallmark feature is the absence of lateral and central incisors and canines whereas first and second premolars are...

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Identifiers

PMID: 32325225
DOI: 10.1016/j.ejmg.2020.103926

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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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