Schinzel-Giedion syndrome
Author:
Publisher
Wiley
Subject
Urology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1442-2042.2001.00291.x/fullpdf
Reference8 articles.
1. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs
2. The Schinzel-Giedion syndrome.
3. A patient with Schinzel-Giedion syndrome and a review of 20 patients
4. Schinzel-Giedion syndrome: Evidence for a neurodegenerative process
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2. Prenatal Diagnosis and Findings in Ureteropelvic Junction Type Hydronephrosis;Frontiers in Pediatrics;2020-09-04
3. Schinzel–Giedion syndrome: a novel case, review and revised diagnostic criteria;Journal of Genetics;2018-01-29
4. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies;PLOS Genetics;2017-03-27
5. 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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