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SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study.

Clinical genetics - 1 Oct 2024

Oyler Haley O, Hudac Caitlin M, Chung Wendy K, Green Synder LeeAnne, Robertson Stephanie, Srivastava Siddharth, Geye Trina

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...

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Identifiers

PMID: 38923504
DOI: 10.1111/cge.14579

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SETBP1

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