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Article

The prevalence, penetrance, and expressivity of etiologic IRF 6variants in orofacial clefts patients from sub‐Saharan Africa

12 Jan 2017

Abstract excerpt

Abstract Background Orofacial clefts are congenital malformations of the orofacial region, with a global incidence of one per 700 live births. Interferon Regulatory Factor 6 (IRF6) (OMIM:607199) gene has been associated with the etiology of both syndromic and nonsyndromic orofacial clefts. The aim of this study was to show evidence of potentially pathogenic variants inIRF6in orofacial clefts cohorts from Africa....

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Identifiers

PMID: 28361103
DOI: 10.1002/mgg3.273

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