Clinical characteristics of HNF1B-related disorders in a Japanese population.

China NaganoNaoya MorisadaKandai NozuKoichi KameiRyojiro TanakaShoichiro KandaShinichi ShionaYoshinori ArakiShinichiro OharaChieko MatsumuraKatsuaki KasaharaYukiko MoriAkane SeoKenichiro MiuraMiki WashiyamaKeisuke SugimotoRyoko HaradaSatoshi TazoeHiroyo KourakataMayumi EnsekiDaisuke AotaniTakeshi YamadaNana SakakibaraTomohiko YamamuraShogo MinamikawaKenji IshikuraShuichi ItoMotoshi HattoriKazumoto Iijima

Published in: Clinical and experimental nephrology (2019)

We present the clinical characteristics of HNF1B-related disorders. To predict renal prognosis and complications, accurate genetic diagnosis is important. Genetic testing for HNF1B mutations should be considered for patients with renal malformations, especially when associated with other organ involvement.

Keyphrases

nuclear factor
high resolution
gene expression
dna methylation
mass spectrometry