Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrent SETBP1 mutation

Unusual neuroradiological features in Schinzel–Giedion syndrome

(2012) Jodi Marianne Lestner et al.   CLINICAL DYSMORPHOLOGY

Schinzel–Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

(2011) Shuei Watanabe et al.   BRAIN & DEVELOPMENT

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome

(2011) K Suphapeetiporn et al.   CLINICAL GENETICS

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

(2010) I. Filges et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Clinical and radiological findings in Schinzel–Giedion syndrome

(2008) Mudaffer AL-Mudaffer et al.   EUROPEAN JOURNAL OF PEDIATRICS