Annals of Pediatric Endocrinology & Metabolism

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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A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene

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