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Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.

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第一作者： Jaya Sujatha,Gopal-Kothandapani

第一单位： Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.

作者： Jaya Sujatha,Gopal-Kothandapani ^[1] ; Arpan B,Doshi ^[2] ; Kath,Smith ^[3] ; Martin,Christian ^[4] ; Talat,Mushtaq ^[5] ; I,Banerjee ^[6] ; Raja,Padidela ^[6] ; Renuka,Ramakrishnan ^[7] ; Catherine,Owen ^[8] ; Timothy,Cheetham ^[8] ; Paul,Dimitri ^[9]

作者单位： Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK. ^[1] Sheffield Medical School, University of Sheffield, Sheffield, UK. ^[2] Department of Genetics, Sheffield Children's Hospital, Sheffield, UK. ^[3] Department of Paediatric Nephrology, Nottingham University Hospitals NHS Trust, Nottingham, UK. ^[4] Department of Paediatric Endocrinology, Leeds General Infirmary, Leeds, UK. ^[5] Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK. ^[6] Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK. ^[7] Department of Paediatric Endocrinology, The Newcastle Upon Tyne Hospitals and NHS Trust, Newcastle upon Tyne, UK. ^[8] Department of Paediatric Endocrinology, Sheffield Children's Hospital, Sheffield, UK.;Professor of Child Health and Consultant in Paediatric Endocrinology, The Department of Paediatric Endocrinology, The Academic Unit of Child Health, Damer St. Building, Sheffield Children's NHS Trust, Western Bank, Sheffield S10 2TH, UK. ^[9]

关键词 NR3C2 SCNN1A SCNN1B hyperkalaemia pseudohypoaldosteronism salt-wasting