Associated Papers
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
39941308 (PubMed )
Supplement: diagnostics-15-00376-s001.zip › diagnostics-3372801-supplementary.xlsx › Hoja1
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
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
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Mouillé M et al.
Orphanet Journal of Rare Diseases, 2022
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
Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome.
Kumar N et al.
Case Reports in Genetics, 2020
SATB2-Associated Syndrome: a Case Report of a De Novo Nonsense Mutation in SATB2 from China and Review of Literature.
Lv HY et al.
Clinical Laboratory, 2018
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Bengani H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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