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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Detalles Bibliográficos
Autores principales: Bulut, Ozgul, Ince, Zeynep, Altunoglu, Umut, Yildirim, Sukran, Coban, Asuman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733194/
https://www.ncbi.nlm.nih.gov/pubmed/29333303
http://dx.doi.org/10.1155/2017/3740524

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733194/
https://www.ncbi.nlm.nih.gov/pubmed/29333303
http://dx.doi.org/10.1155/2017/3740524

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