West Syndrome in a Patient With Schinzel-Giedion Syndrome

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

(2013) Jung Min Ko et al.   CHILDS NERVOUS SYSTEM

Somatic SETBP1 mutations in myeloid malignancies

(2013) Hideki Makishima et al.   NATURE GENETICS

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

Unusual neuroradiological features in Schinzel–Giedion syndrome

(2012) Jodi Marianne Lestner et al.   CLINICAL DYSMORPHOLOGY

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

(2012) Rocco Piazza et al.   NATURE GENETICS

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

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria

(2008) Anna M. Lehman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A