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- [1] Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (11):
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- [8] Two novel mutations of the CLDN16 gene cause familial hypomagnesaemia with hypercalciuria and nephrocalcinosis CLINICAL KIDNEY JOURNAL, 2014, 7 (03): : 282 - 285
- [9] Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features Calcified Tissue International, 2022, 110 : 441 - 450