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
Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations.
Wang Z et al.
Genetics Research, 2025
Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.
Zarate YA et al.
Clinical Genetics, 2024
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
Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome.
Su Y et al.
Frontiers in Pediatrics, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
[Analysis of SATB2 gene mutation in a child with Glass syndrome].
Lin M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
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