Associated Papers
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.
den Hoed J et al.
Hgg Advances, 2026
41139958 (PubMed )
Supplement: mmc1.pdf
Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2024
Genetic analysis of a child with SATB2‑associated syndrome and literature study.
Liu Q et al.
Experimental and Therapeutic Medicine, 2023
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.
Zarate YA et al.
Human Mutation, 2023
40225157 (PubMed )
Supplement: 8200176.f1.zip › Supplementary_File.pdf
Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
Zarate YA et al.
Metabolic Brain Disease, 2021
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Lewis H et al.
Pediatric Neurology, 2020
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