Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families
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DOI: 10.1007/s40620-020-00795-0
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other structures of the urinary tract. The majority of CAKUT are asymptomatic and are… read more here.
Keywords: agenesis; novel loss; renal agenesis; loss function ... See more keywords