Condition: Schinzel-Giedion syndrome


rs267607038 in SETBP1 gene and Schinzel-Giedion syndrome PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

PMID 25028416 2015 West syndrome in a patient with Schinzel-Giedion syndrome.

PMID 25852444 2015 Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.

PMID 25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.