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
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.
den Hoed J et al.
Journal of Medical 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
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