HNF1B alterations associated with congenital anomalies of the kidney and urinary tract

@article{Nakayama2010HNF1BAA,
  title={HNF1B alterations associated with congenital anomalies of the kidney and urinary tract},
  author={Makiko Nakayama and Kandai Nozu and Yuki Goto and Koichi Kamei and Shuichi Ito and Hidenori Sato and Mitsuru Emi and Koichi Nakanishi and Shigeru Tsuchiya and Kazumoto Iijima},
  journal={Pediatric Nephrology},
  year={2010},
  volume={25},
  pages={1073-1079}
}
Hepatocyte nuclear factor 1β (HNF1β) 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 HNF1β related phenotypes, we performed HNF1B gene mutation and deletion analyses in Japanese patients with renal hypodysplasia (n = 31), unilateral multicystic dysplastic kidney (MCDK; n = 14) and others (n = 5). We identified HNF1B alterations in 5 out of 50… CONTINUE READING
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