Naonori Kumagai   Yuji Matsumoto   Tomomi Kondoh   Yohei Ikezumi   
Human Genome Variation 9(1) 2022年8月
Abstract
Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations. Here, we report the case of 3-year-old boy with isolated hematuria detec...