Article
MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.
Clinical nephrology - 1 Sept 2017
Matsukura Hiro, Nagamori Mariko, Miya Kazushi, Yorifuji Tohru
Abstract excerpt
Heterozygous hepatocyte nuclear factor-1-α gene (<italic>HNF1A</italic>) mutations are the most common cause of maturity-onset diabetes of the young (MODY), but they rarely involve extrahepatic manifestations. Renal cysts and diabetes syndrome can be caused by <italic>HNF1B</italic> mutations. No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be...
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