Check out the first publication dedicated to documenting SETBP1 disorder
The first publication dedicated to documenting the SETBP1 disorder phenotype/presentation just published in the European Journal of Human Genetics. Our very own Medical and Scientific Advisory Board member, Dr Brejge van Bon, spearheaded this achievement. This publication documents 34 individuals with SETBP1 haploinsufficiency disorder (SETBP1 disorder). “The most commonly reported clinical features included mild motor […]