Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features - Zaki, Maha S.; Accogli, Andrea; Mirzaa, Ghayda; Rahman, Fatima; Mohammed, Hiba; Porras-Hurtado, Gloria Liliana; Efthymiou, Stephanie; Maqbool, Shazia; Shukla, Anju; Vincent, John B.; Hussain, Abrar; Mir, Asif; et al. (European journal of human genetics : EJHG, 2021)
Keywords: Adolescent; Adult; Apoptosis; Caspase-2; Child; Child, Preschool; Cognition; Death Domain Receptor Signaling Adaptor Proteins - genetics; Developmental Disabilities - genetics; Developmental Disabilities - pathology; DNA damage; Epilepsy; Female; Genes, Recessive; Hereditary diseases; Humans; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - pathology; Lissencephaly - genetics; Lissencephaly - pathology; Male; Megalencephaly; Mutation; Neocortex; Neurodevelopmental disorders; Neuroimaging; p53 Protein; Pedigree; Syndrome