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Identification of six novel variants from nine Chinese families with hypophosphatemic rickets

BACKGROUND: Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑linked gene (PHEX) account for most cases of HR. The aim of this study was to ide...

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Detalles Bibliográficos
Autores principales:	Cao, Yixuan, You, Yi, Wang, Qiong, Ren, Xiuzhi, Li, Shan, Li, Lulu, Xia, Weibo, Guan, Xin, Yang, Tao, Ikegawa, Shiro, Wang, Zheng, Zhao, Xiuli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287957/ https://www.ncbi.nlm.nih.gov/pubmed/35842615 http://dx.doi.org/10.1186/s12920-022-01305-w

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