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Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Varma, Hemant; Faust, Phyllis L; Iglesias, Alejandro D; Lagana, Stephen M; Wou, Karen; Hirano, Michio; DiMauro, Salvatore; Mansukani, Mahesh M; Hoff, Kirsten E; Nagy, Peter L; Copeland, William C; Naini, Ali B.
Afiliação
  • Varma H; Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, USA.
  • Faust PL; Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA.
  • Iglesias AD; Division of Medical Genetics, Columbia University, New York Presbyterian Hospital, USA.
  • Lagana SM; Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA.
  • Wou K; Division of Genetics, New York Presbyterian Hospital, USA.
  • Hirano M; Department of Neurology, Columbia University Medical Center, USA.
  • DiMauro S; Department of Neurology, Columbia University Medical Center, USA.
  • Mansukani MM; Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, USA.
  • Hoff KE; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC 27709, USA.
  • Nagy PL; Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, USA.
  • Copeland WC; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC 27709, USA. Electronic address: copelan1@niehs.nih.gov.
  • Naini AB; Department of Pathology and Cell Biology, Columbia University, 630 W, 168th Street, New York, NY 10032, USA; Division of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University Medical Center, USA. Electronic address: abn2@cumc.columbia.edu.
Eur J Med Genet ; 59(10): 540-5, 2016 Oct.
Article em En | MEDLINE | ID: mdl-27592148
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudo-Obstrução Intestinal / DNA Mitocondrial / Encefalomiopatias Mitocondriais / Falência Hepática Aguda / DNA Polimerase Dirigida por DNA Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pseudo-Obstrução Intestinal / DNA Mitocondrial / Encefalomiopatias Mitocondriais / Falência Hepática Aguda / DNA Polimerase Dirigida por DNA Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Holanda