Diverse phenotypes in children with PAX2‐related disorder

BACKGROUND: The aim of this study was to analyze the diverse phenotypes of children with PAX2‐related disorder so as to improve our understanding of this disease. METHODS: The clinical data of ten children with PAX2 mutations, detected by targeted region capture sequencing or whole‐exome sequencing,...

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Detalles Bibliográficos
Autores principales: Deng, Haiyue, Zhang, Yanqin, Xiao, Huijie, Yao, Yong, Liu, Xiaoyu, Su, Baige, Zhang, Hongwen, Xu, Ke, Wang, Suxia, Wang, Fang, Ding, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565600/
https://www.ncbi.nlm.nih.gov/pubmed/31060108
http://dx.doi.org/10.1002/mgg3.701

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565600/
https://www.ncbi.nlm.nih.gov/pubmed/31060108
http://dx.doi.org/10.1002/mgg3.701

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