Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis-Reference-Cited by-同舟云学术

Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Published:2024-08-29 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Girón-Ortega M.¹^ORCID,Morillo Sánchez M. J.¹,Soto-Sierra M.¹^ORCID,Mena M.²³^ORCID,Antinolo G.²³^ORCID,Ramos-Jiménez M.⁴^ORCID,López-Domínguez M.¹,Rodríguez-de-la-Rúa E.¹⁵^ORCID

Affiliation:

1. Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain

2. Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain

3. Center for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain

4. Department of Clinical Neurophysiology, University Hospital Virgen Macarena, Seville, Spain

5. Member of “Red de Investigación Cooperativa Orientada a Resultados en Salud” (RICORS) en Enfermedades Inflamatorias, Institute Carlos III, Madrid, Spain

Funder

Carlos III Health Institute

Recovery and Resilience Mechanism

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2390021

Reference19 articles.

1. Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis: Phenotype–Genotype Correlation and Outcome in 32 Patients withCLDN16orCLDN19Mutations

2. Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

3. Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis

4. Correction: Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

5. Mutation in the Tight-Junction Gene Claudin 19 (CLDN19) and Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis (FHHNC) and Severe Ocular Disease