Article

SETBP1 Haploinsufficiency and Related Disorders Clinical and Neurobehavioral Phenotype Study

2024-05-25

Abstract excerpt

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 soc...

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Literature Corpus work: c18fddc5-6be6-5fe3-9f96-a5d04fbb7c11
DOI: 10.1101/2024.05.23.24307620

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