Annals of Pediatric Endocrinology & Metabolism

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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

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

Annals of Pediatric Endocrinology & Metabolism. 2019;24(2):137-141

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Vitamin D Hydroxylation–Deficient Rickets, Type 1A

Francis H. Glorieux, René St-Arnaud

Vitamin D. 2018;249-262

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Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report

Doua Khalid Al Homyani, Shahad Khalid Alhemaiani

Frontiers in Endocrinology. 2022;13:

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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

Aris Giannakopoulos, Alexandra Efthymiadou, Dionisios Chrysis

Hormone Research in Paediatrics. 2016;87(1):58-63

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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

Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

Annals of Pediatric Endocrinology & Metabolism. 2016;21(3):169

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Vitamin D Hydroxylation-Deficient Rickets (VDDR) – Types 1A, 1B, 2A, 2B

Adrijan Sarajlija

Genetic Syndromes. 2023;1-4

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Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A

Korcan Demir, Walaa E. Kattan, Minjing Zou, Erdem Durmaz, Huda BinEssa, Özlem Nalbantoğlu, Roua A. Al-Rijjal, Brian Meyer, Behzat Özkan, Yufei Shi

PLOS ONE. 2015;10(7):e0131376

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Identification of vitamin D-dependent rickets type IA caused by a mutation of the CYP27B1 using whole exome sequencing

Shu-fang Wang, Ting Zhou, Meng-ru Du, Jiang Sheng

Asian Journal of Surgery. 2022;45(5):1160-1161

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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

Minjing Zou, Ayla Guven, Huda A. BinEssa, Roua A. Al-Rijjal, Brian F. Meyer, Ali S. Alzahrani, Yufei Shi

Frontiers in Genetics. 2020;11:

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Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP 27B1 mutation

Laila Füchtbauer, Klaus Brusgaard, Pål Ledaal, Morten Frost, Anja L. Frederiksen

Clinical Case Reports. 2015;3(12):1012-1016

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