Article
A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.
Orphanet journal of rare diseases - 12 Nov 2022
Wu Sixian, Wang Xiang, Dai Siyu, Zhang Guohui, Zhou Jiaojiao, Shen Ying
Abstract excerpt
BACKGROUND: Renal hypodysplasia/aplasia-3 (RHDA3), as the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract, is mainly caused by mutations in GREB1L. However, the mutations in GREB1L identified to date only explain a limited proportion of RHDA3 cases, and the mechanism of GREB1L mutations causing RHDA3 is unclear. RESULTS: According to whole-exome sequencing, a...
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