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X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro

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X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the… Click to show full abstract

X‐linked hypophosphatemic rickets (XLHR) is a rare genetic disease, often delayed in diagnosis due to the low degree of suspicion and limited access to sophisticated diagnostic tools that confirm the diagnosis, such as genetic testing.

Keywords: new variants; rickets description; seven new; description seven; hypophosphatemic rickets; linked hypophosphatemic

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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