Article
Genetic variants in Ecuadorian families: unraveling the complexity of non-syndromic cleft lip and palate a case series.
BMC oral health - 4 Mar 2026
Luna-Chonata Darwin, Guaillas-Japon Auki, Almeida Nicolás, Romero Vanessa I, Arias-Almeida Benjamin, Palacios Iván
Abstract excerpt
BACKGROUND: Cleft lip with or without cleft palate (CL ± P) is a common congenital anomaly with complex genetic origins. CASE PRESENTATION: This study presents a genetic case series of three Ecuadorian families with non-syndromic cleft lip and/or palate analyzed using whole-exome sequencing (WES). We identified rare or novel variants in genes with established or emerging roles in craniofacial development....
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