Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome
Oscar F. Chacón‐Camacho, Tania Barragán-Arévalo, Camilo E. Villarroel, Mónica Almanza-Monterrubio, Juan Carlos Zenteno
Topics & Concepts
PhenotypeGeneticsGeneMutationBiologyPachygyriaMicrocephalyIntellectual disabilityMedicineLissencephalyCongenital heart defects researchFetal and Pediatric Neurological DisordersGenomic variations and chromosomal abnormalities