Condition: Chromosome 2q32-Q33 Deletion Syndrome


rs1057521083 in SATB2 gene and Chromosome 2q32-Q33 Deletion Syndrome PMID 28151491 2017 Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

PMID 17377962 2007 Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

PMID 24301056 2014 Further delineation of the SATB2 phenotype.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 25885067 2015 Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.