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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

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