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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.

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Title: Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
Authors: Domingo-Gallego A; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain., Furlano M; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain., Pybus M; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain., Barraca D; Hospital General Universitario Gregorio Marañón, Madrid, Spain., Martínez AB; Hospital General Universitario Gregorio Marañón, Madrid, Spain., Mora Muñoz E; Hospital Universitario Mutua de Terrassa, Barcelona, Catalonia, Spain., Torra R; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain., Ars E; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain. ears@fundacio-puigvert.es.; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain. ears@fundacio-puigvert.es.
Source: BMC nephrology [BMC Nephrol] 2019 Apr 11; Vol. 20 (1), pp. 126. Date of Electronic Publication: 2019 Apr 11.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
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  Data: <searchLink fieldCode="AU" term="%22Domingo-Gallego+A%22">Domingo-Gallego A</searchLink>; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Furlano+M%22">Furlano M</searchLink>; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Pybus+M%22">Pybus M</searchLink>; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Barraca+D%22">Barraca D</searchLink>; Hospital General Universitario Gregorio Marañón, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez+AB%22">Martínez AB</searchLink>; Hospital General Universitario Gregorio Marañón, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Mora+Muñoz+E%22">Mora Muñoz E</searchLink>; Hospital Universitario Mutua de Terrassa, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Torra+R%22">Torra R</searchLink>; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Ars+E%22">Ars E</searchLink>; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain. ears@fundacio-puigvert.es.; Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain. ears@fundacio-puigvert.es.
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  Data: <searchLink fieldCode="JN" term="%22100967793%22">BMC nephrology</searchLink> [BMC Nephrol] 2019 Apr 11; Vol. 20 (1), pp. 126. <i>Date of Electronic Publication: </i>2019 Apr 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967793 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2369 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712369%22">14712369 </searchLink><i>NLM ISO Abbreviation: </i>BMC Nephrol <i>Subsets: </i>MEDLINE
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