ArticleBMC oral health2026
Genetic variants in Ecuadorian families: unraveling the complexity of non-syndromic cleft lip and palate a case series.
Article in BMC oral health, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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6 authors.
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Abstract
backgroundCleft 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. Bioinformatic analyses—while not supported by functional validation—helped prioritize several candidate variants, including a novel KIF7 variant.
conclusionThese findings provide exploratory genetic data from an underrepresented Latin American population and highlight the need to include diverse cohorts in genomic research to improve diagnosis and genetic counseling.
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