Does Genotype–Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature-Reference-Cited by-同舟云学术

Does Genotype–Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature

Published:2021-01-02 Issue:5 Volume:108 Page:576-586
ISSN:0171-967X
Container-title:Calcified Tissue International
language:en
Short-container-title:Calcif Tissue Int

Author:

Kaygusuz Sare Betul^ORCID,Alavanda Ceren,Kirkgoz Tarik,Eltan Mehmet,Yavas Abali Zehra,Helvacioglu Didem,Guran Tulay^ORCID,Ata Pinar^ORCID,Bereket Abdullah^ORCID,Turan Serap^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s00223-020-00784-2.pdf

Reference36 articles.

1. Chiellini G, DeLuca F (2011) The importance of stereochemistry on the actions of vitamin D. Curr Top Med Chem 11:840–859

2. Acar S, Demir K, Shi Y (2017) Genetic causes of rickets. J Clin Res Pediatr Endocrinol 9:88–105. https://doi.org/10.4274/jcrpe.2017.S008

3. Roizen JD, Li D, O’Lear L et al (2018) CYP3A4 mutation causes vitamin D-dependent rickets type 3. J Clin Invest 128:1913–1918

4. Fraser D, Kooh SW, Kind HP et al (1973) Pathogenesis of hereditary vitamin-D-dependent rickets: an inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1α, 25-dihydroxyvitamin D. N Engl J Med 289:817–822

5. Edouard T, Alos N, Chabot G et al (2011) Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol. J Clin Endocrinol Metab 96:82–89. https://doi.org/10.1210/jc.2010-1340

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations;American Journal of Medical Genetics Part A;2024-06

2. Compound Heterozygous Variants of CYP27B1 Causing Autosomal Recessive Vitamin D-Dependent Rickets Type 1A in an Indian Child;Indian Pediatrics Case Reports;2024-04

3. Vitamin D deficiency or resistance and hypophosphatemia;Best Practice & Research Clinical Endocrinology & Metabolism;2024-03

4. Regulation of extra-renal synthesis of 1,25(OH)2D;Feldman and Pike' s Vitamin D;2024

5. Vitamin D hydroxylation–deficient rickets, type 1A;Feldman and Pike's Vitamin D;2024