Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene.
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Intern Med. 2018 Dec 15;57(24):3603-3610. doi: 10.2169/internalmedicine.1272-18. Epub 2018 Aug 10.
Intern Med. 2018.
PMID: 30101934
Free PMC article.