Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort

BACKGROUND: Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis. Phenotypic variability makes it difficult to define the ph...

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Detalles Bibliográficos
Autores principales: Yang, Xue, Li, Yaqi, Fang, Ye, Shi, Hua, Xiang, Tianchao, Liu, Jiaojiao, Liu, Jialu, Tang, Xiaoshan, Fang, Xiaoyan, Chen, Jing, Zhai, Yihui, Shen, Qian, Bi, Yunli, Qian, Yanyan, Wu, Bingbing, Wang, Huijun, Zhou, Wenhao, Ma, Duan, Bai, Haitao, Mao, Jianhua, Chen, Lizhi, Wang, Xiaowen, Gao, Xiaojie, Zhang, Ruifeng, Zhuang, Jieqiu, Zhang, Aihua, Jiang, Xiaoyun, Xu, Hong, Rao, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8543950/
https://www.ncbi.nlm.nih.gov/pubmed/34696790
http://dx.doi.org/10.1186/s12920-021-01102-x

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