Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
rs1057519594 in
SETBP1 gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.
PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
PMID 25852444 2015 Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.