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A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.
Furuta, Yutaka; Nelson, Erica T; Neumann, Serena M; Phillips, John A; Hamid, Rizwan; Tinker, Rory J; Cogan, Joy D; Rives, Lynette; Newman, John H.
Affiliation
  • Furuta Y; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Nelson ET; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Neumann SM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Phillips JA; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Tinker RJ; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Rives L; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Newman JH; Pulmonary Hypertension Center, Division of Allergy, Pulmonary, and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Am J Med Genet A ; 191(12): 2873-2877, 2023 12.
Article in En | MEDLINE | ID: mdl-37622199
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease Type of study: Diagnostic_studies / Prognostic_studies Limits: Aged / Humans / Male Language: En Journal: Am J Med Genet A Year: 2023 Document type: Article
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease Type of study: Diagnostic_studies / Prognostic_studies Limits: Aged / Humans / Male Language: En Journal: Am J Med Genet A Year: 2023 Document type: Article