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Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature

Crossref DOI link: https://doi.org/10.1186/s12882-019-1317-y

Published Online: 2019-04-11

Published Print: 2019-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Domingo-Gallego, Andrea

Furlano, Mónica

Pybus, Marc

Barraca, Daniel

Martínez, Ana Belén

Mora Muñoz, Emiliano

Torra, Roser

Ars, Elisabet https://orcid.org/0000-0002-4118-4358
Funding

Funding for this research was provided by:

Instituto de Salud Carlos III (PI16/01998, PI18/00362)

Red de Investigación Renal (RD16/0009/0019)
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Article History

Received: 28 November 2018

Accepted: 29 March 2019

First Online: 11 April 2019

Ethics approval and consent to participate

: This study was approved by Fundació Puigvert Institutional Review Board. The parents of the patients provided written informed consent to participate in this study.

: The parents of the patients provided written informed consent to publish this case report, including case description, medical data, and images, maintaining anonymity.

: RT is the Editorial Board Member of BMC Nephrology. The other authors declare that they have no competing interests.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.