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Article

Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Sept 2021

Velázquez-Aragón José A, González-Del Angel Ariadna, Alcántara-Ortigoza Miguel A, Reyna-Fabián Miriam E, Estandia-Ortega Bernardette

Abstract excerpt

OBJECTIVE: To screen for interferon regulatory factor 6 (IRF6) pathogenic variants in patients clinically diagnosed with nonsyndromic cleft lip palate (NSCL/P) and establish the proportion of misdiagnosed Van der Woude syndrome (VWS) cases, which could have biased previous NSCL/P case-control association studies. DESIGN: Retrospective case series. SETTING: Tertiary care children's hospital. PARTICIPANTS: One...

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Source

Identifiers

PMID: 33334172
DOI: 10.1177/1055665620980238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.PMID 33334172Read ↗

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