A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis
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DOI: 10.1111/cge.14128
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of abnormalities affecting morphogenesis of the kidneys and other structures of the urinary tract. Bilateral renal agenesis (BRA) is the most severe presentation… read more here.
Keywords: agenesis; renal agenesis; null founder; founder variant ... See more keywords