Cobblestone Lissencephaly in Schinzel-Giedion Syndrome
Author:
Affiliation:
1. Department of Pathology & Molecular Medicine, McMaster University and Hamilton Health Sciences, Hamilton, Ontario, Canada
Publisher
SAGE Publications
Subject
Clinical Neurology,Pediatrics, Perinatology, and Child Health
Link
http://journals.sagepub.com/doi/pdf/10.1177/0883073812441250
Reference21 articles.
1. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs
2. Neurosonography and pathology in the Schinzel-Giedion syndrome.
3. New finding of Schinzel-Giedion syndrome: A case with a malignant sacrococcygeal teratoma
4. Schinzel-Giedion syndrome: Autopsy report and additional clinical manifestations
5. Three new cases of the Schinzel-Giedion syndrome and review of the literature
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2. Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes, and muscles;Developmental Neurobiology;2018-02-02
3. Schinzel–Giedion syndrome: a novel case, review and revised diagnostic criteria;Journal of Genetics;2018-01-29
4. Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features;Case Reports in Genetics;2017
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