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Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.
Sabella-Jiménez, Vanessa; Otero-Herrera, Carlos; Silvera-Redondo, Carlos; Garavito-Galofre, Pilar.
Affiliation
  • Sabella-Jiménez V; Genetics and Molecular Medicine Research Group, Universidad del Norte, Barranquilla, Colombia.
  • Otero-Herrera C; Genetics and Molecular Medicine Research Group, Universidad del Norte, Barranquilla, Colombia.
  • Silvera-Redondo C; Genetics, Department of Medicine, Genetics and Molecular Medicine Research Group, Universidad del Norte, Barranquilla, Colombia.
  • Garavito-Galofre P; Genetics, Department of Medicine, Genetics and Molecular Medicine Research Group, Universidad del Norte, Barranquilla, Colombia.
Mol Genet Genomic Med ; 8(11): e1509, 2020 11.
Article in En | MEDLINE | ID: mdl-33030289
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Full text: 1 Database: MEDLINE Main subject: DNA, Mitochondrial / Kearns-Sayre Syndrome / Mitochondrial Diseases / Congenital Bone Marrow Failure Syndromes / Lipid Metabolism, Inborn Errors / Muscular Diseases Type of study: Diagnostic_studies Limits: Child / Female / Humans Country/Region as subject: America do sul / Colombia Language: En Journal: Mol Genet Genomic Med Year: 2020 Type: Article Affiliation country: Colombia
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Full text: 1 Database: MEDLINE Main subject: DNA, Mitochondrial / Kearns-Sayre Syndrome / Mitochondrial Diseases / Congenital Bone Marrow Failure Syndromes / Lipid Metabolism, Inborn Errors / Muscular Diseases Type of study: Diagnostic_studies Limits: Child / Female / Humans Country/Region as subject: America do sul / Colombia Language: En Journal: Mol Genet Genomic Med Year: 2020 Type: Article Affiliation country: Colombia