Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A
Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Ann Pediatr Endocrinol Metab. 2016;21(3):169-173.   Published online 2016 Sep 30     DOI: https://doi.org/10.6065/apem.2016.21.3.169
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