Article
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
Pediatric nephrology (Berlin, Germany) - 1 Jun 2010
Nakayama Makiko, Nozu Kandai, Goto Yuki, Kamei Koichi, Ito Shuichi, Sato Hidenori, Emi Mitsuru, Nakanishi Koichi, Tsuchiya Shigeru, Iijima Kazumoto
Abstract excerpt
Hepatocyte nuclear factor 1beta (HNF1beta) abnormalities have been recognized to cause congenital anomalies of the kidney and urinary tract (CAKUT), predominantly affecting bilateral renal malformations. To further understand the spectrum of HNF1beta related phenotypes, we performed HNF1B gene mu...
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