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Clinical Exome Sequencing Identifies a Novel Mutation of the GREB1L Gene in a Chinese Family with Renal Agenesis.

Genetic testing and molecular biomarkers - 1 Aug 2020

Wang Ancong, Ji Baoju, Wu Fengxia, Zhao Xiangyu

Abstract excerpt

Background: Renal agenesis (RA) is one of the most severe congenital anomalies of the kidney and urinary tract; it is known to be highly genetically heterogeneous. The purpose of this study was to explore the clinical significance of genetic diagnostics in a Chinese RA family. Methods: Five members of an RA family and 100 healthy people were recruited. Clinical exome sequencing was conducted to explore the...

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PMID: 32598191
DOI: 10.1089/gtmb.2020.0036

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