Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Meyers, Nicole; Nelson-Williams, Carol; Malaga-Dieguez, Laura; Kaufmann, Horacio; Loring, Erin; Knight, James; Lifton, Richard P; Trachtman, Howard

Meyers, Nicole; Nelson-Williams, Carol; Malaga-Dieguez, Laura; Kaufmann, Horacio; Loring, Erin; Knight, James; Lifton, Richard P; Trachtman, Howard.

Afiliação

Meyers N; Division of Nephrology, Department of Pediatrics, NYU Langone Health, New York, NY.
Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT.
Malaga-Dieguez L; Division of Nephrology, Department of Pediatrics, NYU Langone Health, New York, NY.
Kaufmann H; Department of Neurology, NYU Langone Health, New York, NY.
Loring E; Department of Genetics, Yale University School of Medicine, New Haven, CT.
Knight J; Department of Genetics, Yale University School of Medicine, New Haven, CT.
Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT.
Trachtman H; Division of Nephrology, Department of Pediatrics, NYU Langone Health, New York, NY. Electronic address: howard.trachtman@nyumc.org.

Am J Kidney Dis ; 73(3): 425-428, 2019 03.

Article em En | MEDLINE | ID: mdl-30482581

Assuntos

Claudinas/genética; Hipopotassemia/genética; Mutação; Criança; Humanos; Masculino

Palavras-chave

Claudin-10 (CLDN10); alacrima; anhydrosis; aptyalism; case report; genetic disease; hypermagnesemia; hypokalemia; kidney function; mutation detection; paracellular transport; tight junction; whole-exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Claudinas / Hipopotassemia / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Humans / Male Idioma: En Revista: Am J Kidney Dis Ano de publicação: 2019 Tipo de documento: Article

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