دورية أكاديمية
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
| العنوان: | Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features |
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| المؤلفون: | Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban |
| المصدر: | Case Reports in Genetics, Vol 2017 (2017) |
| بيانات النشر: | Hindawi Limited, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | Genetics, QH426-470 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2090-6544 2090-6552 |
| Relation: | https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552 |
| DOI: | 10.1155/2017/3740524 |
| URL الوصول: | https://doaj.org/article/632372a3bdd1402ca28125a7e6fdd753 |
| رقم الأكسشن: | edsdoj.632372a3bdd1402ca28125a7e6fdd753 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20906544 20906552 |
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| DOI: | 10.1155/2017/3740524 |