Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
TV Fernandez, ZP Williams, T Kline, S Rajendran… - Plos one, 2023 - journals.plos.org
Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual
disability, or sensory deprivation, as well as in typically developing children (“primary”
stereotypies, pCMS). The precise pathophysiological mechanism for motor stereotypies is
unknown, although genetic etiologies have been suggested. In this study, we perform whole-
exome DNA sequencing in 129 parent-child trios with pCMS and 853 control trios (118
cases and 750 controls after quality control). We report an increased rate of de novo …
disability, or sensory deprivation, as well as in typically developing children (“primary”
stereotypies, pCMS). The precise pathophysiological mechanism for motor stereotypies is
unknown, although genetic etiologies have been suggested. In this study, we perform whole-
exome DNA sequencing in 129 parent-child trios with pCMS and 853 control trios (118
cases and 750 controls after quality control). We report an increased rate of de novo …
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways
TV Fernandez, ZP Williams, T Kline, S Rajendran… - bioRxiv, 2019 - biorxiv.org
Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual
disability, or sensory deprivation, as well as in typically developing children (“primary”
stereotypies, CMS). The precise pathophysiological mechanism for motor stereotypies is
unknown, although genetic etiologies have been suggested. In this study, we perform whole-
exome DNA sequencing in 129 parent-child trios with CMS and 853 control trios (118 cases
and 750 controls after quality control). We report an increased rate of de novo predicted …
disability, or sensory deprivation, as well as in typically developing children (“primary”
stereotypies, CMS). The precise pathophysiological mechanism for motor stereotypies is
unknown, although genetic etiologies have been suggested. In this study, we perform whole-
exome DNA sequencing in 129 parent-child trios with CMS and 853 control trios (118 cases
and 750 controls after quality control). We report an increased rate of de novo predicted …
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