SETD1B-associated neurodevelopmental disorder.

Alexandra RostonDan EvansHarinder GillMargaret McKinnonBertrand IsidorBenjamin CognéJill MwenifumboClara van KarnebeekJianghong AnSteven J M JonesMatthew FarrerMichelle DemosMary ConnollyWilliam T Gibsonnull nullnull null

Published in: Journal of medical genetics (2020)

Rare coding variants in SETD1B can cause a diagnosable syndrome and could contribute as a risk factor for epilepsy, autism and other neurodevelopmental phenotypes. In the long term, some patients may also be at increased risk for cancers and other complex diseases. Thus, longitudinal studies are required to further elucidate the precise role of SETD1B in neurodevelopmental disorders and other systemic disease.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
prognostic factors
peritoneal dialysis
congenital heart disease
cross sectional
intellectual disability
copy number
gene expression
patient reported
childhood cancer