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Article

Tooth agenesis related to a novel KDF1 variant: A case report and literature review.

Oral diseases - 1 Nov 2024

Intarak Narin, Manaspon Chawan, Theerapanon Thanakorn, Prommanee Sasiprapa, Samaranayake Lakshman, Shotelersuk Vorasuk, Porntaveetus Thantrira

Abstract excerpt

OBJECTIVES: To investigate the role of Keratinocyte Differentiation Factor 1 (KDF1) in ectodermal dysplasia (ED) and nonsyndromic tooth agenesis (NSTA) and perform a literature review. METHODS: Genome sequencing was used to identify genetic variants in a Thai, NSTA proband and validated through Sanger sequencing. Pathogenicity was assessed using ACMG guidelines, MetaRNN and AlphaMissense. A comprehensive review...

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Identifiers

PMID: 38501196
DOI: 10.1111/odi.14930

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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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