Genotype and phenotype analysis of a case of congenital anomalies of kidney and urinary tract syndrome with or without hearing loss，abnormal ears or developmental delay caused by PBX1 mutation

Wu Liting; Shi Yu; Huang Daochao; Wu Rui; Li Shuxiang; Zhou Quansheng; Gui Junfeng; Cai Yiqing; Song Cui

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Genotype and phenotype analysis of a case of congenital anomalies of kidney and urinary tract syndrome with or without hearing loss，abnormal ears or developmental delay caused by PBX1 mutation

更新时间：2022-06-10

- Genotype and phenotype analysis of a case of congenital anomalies of kidney and urinary tract syndrome with or without hearing loss，abnormal ears or developmental delay caused by PBX1 mutation
- Journal of Chongqing Medical University Vol. 47, Issue 3, Pages: 358-362(2022)
- 作者机构：
  
  1. 重庆医科大学附属儿童医院1. 内分泌遗传代谢科、国家儿童健康与疾病临床医学研究中心、儿童发育疾病研究教育部重点实验室、儿科学重庆市重点实验室
  2. 检验科
  3. 儿科研究所,重庆,400014
- 作者简介：
- 基金信息：
- DOI：
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- Published：2022，
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Wu Liting, Shi Yu, Huang Daochao, et al. Genotype and phenotype analysis of a case of congenital anomalies of kidney and urinary tract syndrome with or without hearing loss，abnormal ears or developmental delay caused by PBX1 mutation. [J]. Journal of Chongqing Medical University 47(3):358-362(2022)
DOI：

Wu Liting, Shi Yu, Huang Daochao, et al. Genotype and phenotype analysis of a case of congenital anomalies of kidney and urinary tract syndrome with or without hearing loss，abnormal ears or developmental delay caused by PBX1 mutation. [J]. Journal of Chongqing Medical University 47(3):358-362(2022) DOI：

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Genotype and phenotype analysis of a case of congenital anomalies of kidney and urinary tract syndrome with or without hearing loss，abnormal ears or developmental delay caused by PBX1 mutation

DOI：

摘要

Abstract

关键词

Keywords

references