Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
Joint Authors
Bulut, Ozgul
Ince, Zeynep
Altunoglu, Umut
Yildirim, Sukran
Coban, Asuman
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-12-03
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy.
Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS.
Most affected individuals do not survive after childhood because of the severity of this disorder.
Here, we report SETBP1 mutation confirmed by molecular analysis in a case of SGS with congenital megacalycosis.
American Psychological Association (APA)
Bulut, Ozgul& Ince, Zeynep& Altunoglu, Umut& Yildirim, Sukran& Coban, Asuman. 2017. 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،Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145344
Modern Language Association (MLA)
Bulut, Ozgul…[et al.]. 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 No. 2017 (2017), pp.1-4.
https://search.emarefa.net/detail/BIM-1145344
American Medical Association (AMA)
Bulut, Ozgul& Ince, Zeynep& Altunoglu, Umut& Yildirim, Sukran& Coban, Asuman. 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. Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145344
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145344