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A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene
You-Min Kim, Yoon-Young Jang, Ji-Eun Jeong, Hye-Jin Park, Ja-Hyun Jang, Jin-Kyung Kim
Ann Pediatr Endocrinol Metab. 2019;24(2):137-141.   Published online June 30, 2019
DOI: https://doi.org/10.6065/apem.2019.24.2.137

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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   Crossref logo
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Vitamin D Hydroxylation–Deficient Rickets, Type 1A
Vitamin D. 2018;249-262   Crossref logo
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Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report
Frontiers in Endocrinology. 2022;13:   Crossref logo
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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
Hormone Research in Paediatrics. 2016;87(1):58-63   Crossref logo
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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   Crossref logo
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Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A
PLOS ONE. 2015;10(7):e0131376   Crossref logo
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Identification of vitamin D-dependent rickets type IA caused by a mutation of the CYP27B1 using whole exome sequencing
Asian Journal of Surgery. 2022;45(5):1160-1161   Crossref logo
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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:   Crossref logo
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Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP 27B1 mutation
Clinical Case Reports. 2015;3(12):1012-1016   Crossref logo
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“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   Crossref logo
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