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Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1941
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.
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Keywords:
new variants;
rickets description;
seven new;
description seven ... See more keywords