ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder - Carapito, Raphael; Ivanova, Ekaterina L.; Morlon, Aurore; Meng, Linyan; Molitor, Anne; Erdmann, Eva; Kieffer, Bruno; Pichot, Angélique; Naegely, Lydie; Kolmer, Aline; Paul, Nicodème; Hanauer, Antoine; et al. (American journal of human genetics, 2019)
Keywords: Alleles; Animals; Child; Child, Preschool; Developmental Disabilities - genetics; Developmental Disabilities - pathology; Female; Humans; Infant; intellectual disability; Intellectual Disability - genetics; Intellectual Disability - pathology; Life Sciences; Male; Mice; neurodevelopmental disorder; neuronal positioning; Point Mutation; Syndrome; Transcription Factors - chemistry; Transcription Factors - genetics; Transcription Factors - metabolism; transcriptional coactivation; ZMIZ1; neuronal positioning; transcriptional coactivation; ZMIZ1; neurodevelopmental disorder; intellectual disability