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Article

Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.

Molecular genetics & genomic medicine - 1 May 2023

Naicker Thirona, Alade Azeez, Adeleke Chinyere, Mossey Peter A, Awotoye Waheed A, Busch Tamara, Li Mary, Olotu Joy, Aldous Colleen, Butali Azeez

Abstract excerpt

BACKGROUND: To date, there are over 320 variants identified in the IRF6 gene that cause Van der Woude syndrome or popliteal pterygium syndrome. We sequenced this gene in a South African orofacial cleft cohort to identify the causal IRF6 variants in our population. METHOD: Saliva samples from 100 patients with syndromic and non-syndromic CL ± P were collected. Patients were recruited from the cleft clinics at two...

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Identifiers

PMID: 36811272
DOI: 10.1002/mgg3.2138
PMCID: PMC10178789

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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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