Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: <i>OCRL</i> Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Gianesello, Lisa; Arroyo, Jennifer; Del Prete, Dorella; Priante, Giovanna; Ceol, Monica; Harris, Peter C; Lieske, John C; Anglani, Franca

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Gianesello, Lisa; Arroyo, Jennifer; Del Prete, Dorella; Priante, Giovanna; Ceol, Monica; Harris, Peter C; Lieske, John C; Anglani, Franca.

Afiliação

Gianesello L; Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Arroyo J; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
Del Prete D; Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Priante G; Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Ceol M; Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.
Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
Lieske JC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.
Anglani F; Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.

Genes (Basel) ; 12(10)2021 10 11.

Article em En | MEDLINE | ID: mdl-34680992

Assuntos

Doenças Genéticas Ligadas ao Cromossomo X/genética; Pleiotropia Genética/genética; Nefrolitíase/genética; Síndrome Oculocerebrorrenal/genética; Monoéster Fosfórico Hidrolases/genética; Adolescente; Variação Biológica da População/genética; Criança; Pré-Escolar; Feminino; Estudos de Associação Genética; Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico; Doenças Genéticas Ligadas ao Cromossomo X/epidemiologia; Genótipo; Humanos; Rim/metabolismo; Rim/patologia; Masculino; Mutação de Sentido Incorreto/genética; Nefrolitíase/diagnóstico; Nefrolitíase/epidemiologia; Síndrome Oculocerebrorrenal/diagnóstico; Síndrome Oculocerebrorrenal/epidemiologia; Fenótipo

Palavras-chave

Dent disease 2; Lowe syndrome; OCRL domains; OCRL mutations; genotypephenotype correlations

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Monoéster Fosfórico Hidrolases / Doenças Genéticas Ligadas ao Cromossomo X / Nefrolitíase / Pleiotropia Genética / Síndrome Oculocerebrorrenal Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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