Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice

Background: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is a rare syndromic intellectual disability (ID) caused by homozygous disruption of PDZD8 (PDZ domain-containing protein 8), an integral endoplasmic reticulum (ER) protein. All four previously identified IDDAD...

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Main Authors: Pantiru, AD, Van de Sompele, S, Ligneul, C, Chatelain, C, Barrea, C, Lerch, JP, Filippi, BM, Alkan, S, De Baere, E, Johnston, J, Clapcote, SJ
Format: Journal article
Language:English
Published: BioMed Central 2025