A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes
一种与常染色体显性遗传性肾小管间质性肾病相关的新型HNF1B基因杂合致病变异,伴有广泛的肾外表型
期刊:Internal Medicine
影响因子:1.1
doi:10.2169/internalmedicine.4548-24
Kaimori, Jun-Ya; Matsuda, Jun; Jan, Asif; Kawano, Yuki; Kawaoka, Takayuki; Asahina, Yuta; Doi, Yohei; Oka, Tatsufumi; Nagata, Miho; Ishihara, Yasuki; Miyashita, Yohei; Asano, Toshihiro; Sakaguchi, Yusuke; Isaka, Yoshitaka