PMID 25763846 2015 Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
PMID 26833328 2016 De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
PMID 24607389 2014 Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
PMID 24690944 2014 Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
rs1555922391 in
USP9X gene and
Muscle hypotonia
PMID 24607389 2014 Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
PMID 25763846 2015 Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
PMID 26833328 2016 De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
PMID 28688840 2017 Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
PMID 24690944 2014 Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.