Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features-Reference-Cited by-同舟云学术

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features

Published:2021-11-11 Issue: Volume: Page:
ISSN:0171-967X
Container-title:Calcified Tissue International
language:en
Short-container-title:Calcif Tissue Int

Author:

Eltan Mehmet,Yavas Abali Zehra,Turkyilmaz Ayberk,Gokce Ibrahim,Abali Saygın,Alavanda Ceren,Arman Ahmet,Kirkgoz Tarik,Guran Tulay,Hatun Sukru,Bereket Abdullah,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/s00223-021-00928-y.pdf

Reference36 articles.

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2. Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M et al (2001) Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12:1872–1881

3. Sikora P, Zaniew M, Haisch L, Pulcer B, Szczepanska M, Moczulska A et al (2015) Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations. Nephrol Dial Transplant 30:636–644

4. Bardet C, Courson F, Wu Y, Khaddam M, Salmon B, Ribes S et al (2016) Claudin-16 deficiency impairs tight junction function in ameloblasts, leading to abnormal enamel formation. J Bone Miner Res 31:498–513

5. Chan HC, Estrella NM, Milkovich RN, Kim JW, Simmer JP, Hu JC (2011) Target gene analyses of 39 amelogenesis imperfecta kindreds. Eur J Oral Sci 119(Suppl 1):311–323

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