SETBP1-HD – what does this mean?
What is SETBP1-HD you ask? Well, it is the new way to refer to SETBP1 disorder. Earlier this year, two publications recommended referring to the neurodevelopmental disorder caused by a SETBP1 loss-of-function variant as SETBP1 haploinsufficiency disorder. This is an accurate description as haploinsufficiency means one copy of a gene is inactivated or deleted and the […]