Medical Journal Articles
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Below is a list of other representative medical papers that have discussed cases with SATB2-associated syndrome caused by either deletions, duplications, or mutations in the SATB2 gene.
In this study, the authors describe 7 patients with deletions at 2q33.1 providing further evidence of the role of SATB2 in the main feaures seen in this syndrome
In this study, several of the functions of the SATB2 gene are explained through animal models.
In this report, the second case of SAS with a mutation in SATB2 is described.
This is the first paper that linked SATB2 gene to cleft palate.
In this report a female patient with a duplication that includes SATB2 is described.
In this report, the authors decribed 2 female patients with SAS that also had Rett syndrome-like features.
This was the first report of what we now describe as SAS.
In this report, 3 additional patients with deletions including SATB2 are described.
In this report, 4 additional patients with deletions including SATB2 are described.
In this report, 5 patients with SAS and mutations in SATB2 are described.
In this report, several patients with SAS and skeletal problems are described.
In the following 2 reports, several individuals with SAS were described: