Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen et al. · Nature Genetics · 2010 · 507 citations

Life Sciences, Genetics, Molecular Genetics +7

A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

Albert Schinzel, A Giedion · American Journal of Medical Genetics · 1978 · 149 citations

Medicine, Genetics, Pediatrics +17

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

Jung Min Ko, Byung Chan Lim, Ki Joong Kim et al. · Child s Nervous System · 2013 · 63 citations

Medicine, Neurology, Neuroscience +11

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

Anna Lehman, Deborah E. McFadden, Denise Pugash et al. · American Journal of Medical Genetics Part A · 2008 · 54 citations

Medicine, Pediatrics, Human Genetics +14

Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in <i>SETBP1</i> and literature review of the clinical features

Ellaine Dóris Fernandes Carvalho, Rachel Sayuri Honjo, Monize Lazar Magalhães et al. · American Journal of Medical Genetics Part A · 2015 · 52 citations · Full text

Medicine, Neurology, Pediatrics +16