Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features

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....

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Bibliographic Details
Main Authors: Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban
Format: Article
Language:English
Published: Wiley 2017-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2017/3740524
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