Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects - Almontashiri, Naif A. M.; Mushiba, Aziza; Alruqi, Haya; Alharby, Essa; Hashmi, Jamil Amjad (Clinical genetics, 2025)
Keywords: Alleles; dysmorphism; Female; Genetic Predisposition to Disease; Humans; Loss of Function Mutation - genetics; Male; neurodevelopmental disorder; Neurodevelopmental disorders; Neurodevelopmental Disorders - genetics; Neurodevelopmental Disorders - pathology; Phenotype; recessive; SEC31A; skeletal defects; Vesicular Transport Proteins - genetics; dysmorphism; skeletal defects; neurodevelopmental disorder; SEC31A; recessive