Galloway-Mowat综合征一例
Chinese Journal of Nephrology（2020）
Abstract
本例患儿表现为小头畸形、生长及智能等发育迟缓以及肾病综合征。全外显子测序发现患儿在20号常染色体的45317947和45315426位置上分别发生c.107T>C和c.728G>T突变。
MoreKey words
syndrome,galloway-mowat
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