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A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype

AimX-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. The main purpose of this study is to identify the presence of a genotype-phenotype correlation...

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書誌詳細
主要な著者:	Mauro Borghi (著者), Leopoldo Muniz da Silva (著者), Luciana Bispo (著者), Carlos A. Longui (著者)
フォーマット:	図書
出版事項:	Frontiers Media S.A., 2023-09-01T00:00:00Z.
主題:	article
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