Vitamin D Dependent Rickets Type 1 Due to a Novel Mutation in CYP27B1 Gene in a 16-Month-Old Male Presenting with Severe Proximal Muscle Weakness, Renal Tubular Dysfunction and Failure to Thrive.

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作者
Yan, Yun [1 ]
Fudge, Elizabeth [1 ]
Calikoglu, Ali [1 ]
Jain, Nina [1 ]
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[1] Univ N Carolina, Chapel Hill, NC USA
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R5 [内科学];
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1002 ; 100201 ;
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