SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study

To comprehensively investigate the neurodevelopmental profile and clinical characteristics associated with SETBP1 haploinsufficiency disorder (SETBP1-HD) and SETBP1-related disorders (SETBP1-RD). We reported genetic results on 34 individuals, with behavior and clinical data from 22 with SETBP1-HD and 5 with SETBP1-RD, by assessing results from medical history interviews and standardized adaptive, clinical, and social measures provided from Simons Searchlight. All individuals with SETBP1-HD and…

via https://pubmed.ncbi.nlm.nih.gov/38923504/?utm_source=no_user_agent&utm_medium=rss&utm_campaign=None&utm_content=1lqZ3NPYysePVKsoyz66mDSgu4veDGJwnUBS47TBQPoOuNZY5J&fc=None&ff=20240714011007&v=2.18.0.post9+e462414