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 an...

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Veröffentlicht in:	Clinical genetics 2024-10, Vol.106 (4), p.448-461
Hauptverfasser:	Oyler, Haley O., Hudac, Caitlin M., Chung, Wendy K., Green Synder, LeeAnne, Robertson, Stephanie, Srivastava, Siddharth, Geye, Trina
Format:	Artikel
Sprache:	eng
Schlagworte:	adaptive behavior Attention deficit hyperactivity disorder Autism Haploinsufficiency Intellectual disabilities intellectual disability Neonates Neurodevelopmental disorders Phenotypes phenotypic variability Risk assessment Seizures SET‐binding protein Social behavior Speech speech or language developmental disorder
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