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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 | |
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 Vitamin D Hydroxylation–Deficient Rickets, Type 1A Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the <b><i>CYP27B1</i></b> Gene Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error “Vitamin D-dependent Rickets, type II: A novel homozygous mutation in exon 10 of the vitamin D receptor gene and response to thiazide diuretics” Identification of vitamin D-dependent rickets type IA caused by a mutation of the CYP27B1 using whole exome sequencing Novel vitamin D 1α-hydroxylase gene mutations in a Chinese vitamin-D-dependent rickets type I patient |