Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study

Background: PAX2 is a nuclear transcription factor gene that is highly conserved among species. Variants within PAX2 could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available about PAX2 variants in Chinese children. Objective...

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Detalles Bibliográficos
Autores principales: Xiong, Hua-Ying, Shi, Yong-Qi, Zhong, Cheng, Yang, Qin, Zhang, Gaofu, Yang, Haiping, Wu, Daoqi, Chen, Yaxi, Li, Qiu, Wang, Mo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014304/
https://www.ncbi.nlm.nih.gov/pubmed/35444690
http://dx.doi.org/10.3389/fgene.2022.799562

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014304/
https://www.ncbi.nlm.nih.gov/pubmed/35444690
http://dx.doi.org/10.3389/fgene.2022.799562

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