Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.

Durkie, Miranda; Chong, Jiehan; Valluru, Manoj K; Harris, Peter C; Ong, Albert C M

Durkie, Miranda; Chong, Jiehan; Valluru, Manoj K; Harris, Peter C; Ong, Albert C M.

Afiliação

Durkie M; Sheffield Diagnostics Genetic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Chong J; Kidney Genetics Group, Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UK.
Valluru MK; Kidney Genetics Group, Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UK.
Harris PC; Division of Nephrology and Hypertension, Mayo Clinic and Foundation, Rochester, MN, USA.
Ong ACM; Kidney Genetics Group, Academic Nephrology Unit, Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UK. a.ong@sheffield.ac.uk.

Genet Med ; 23(4): 689-697, 2021 04.

Article em En | MEDLINE | ID: mdl-33168999

Assuntos

Hereditariedade; Rim Policístico Autossômico Dominante; Criança; Humanos; Lactente; Mutação; Rim Policístico Autossômico Dominante/diagnóstico; Rim Policístico Autossômico Dominante/epidemiologia; Rim Policístico Autossômico Dominante/genética; Canais de Cátion TRPP/genética; Sequenciamento do Exoma

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rim Policístico Autossômico Dominante / Hereditariedade Tipo de estudo: Diagnostic_studies / Guideline / Risk_factors_studies Limite: Child / Humans / Infant Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido

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