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| Long-term clinical outcome and the identification of homozygous |
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| Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo | |
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Ann Pediatr Endocrinol Metab. 2016;21(3):169-173. Published online September 30, 2016 DOI: https://doi.org/10.6065/apem.2016.21.3.169 |
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Long-term clinical outcome and the identification of homozygousCYP27B1gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A Annals of Pediatric Endocrinology & Metabolism. 2016;21(3):169  Vitamin D Hydroxylation–Deficient Rickets, Type 1A Vitamin D. 2018;249-262 A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene Annals of Pediatric Endocrinology & Metabolism. 2019;24(2):137-141 Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A PLOS ONE. 2015;10(7):e0131376 A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene Hormone Research in Paediatrics. 2016;87(1):58-63 Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error Frontiers in Genetics. 2020;11: “Vitamin D-dependent Rickets, type II: A novel homozygous mutation in exon 10 of the vitamin D receptor gene and response to thiazide diuretics” Bone. 2007;40(6):S29 Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient Journal of Genetics. 2011;90(2):339-342 Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report . 2020; Long-term Outcome of a Patient With Transcobalamin Deficiency Caused by the Homozygous c.1115_1116delCA Mutation in TCN2 Gene: a Case Report . 2021; |
