Associated Papers
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
Zaki MS et al.
European Journal of Human Genetics : Ejhg, 2021
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
Sheikh TI et al.
Translational Psychiatry, 2021
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R et al.
Molecular Psychiatry, 2018
Select a paper to view details