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Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
Polonis, Katarzyna; Lopes, Jaime L; Cabral, Huong; Babcock, Holly E; Kline, Laura; Ruiz, Kaylee M; Schwartz, Stuart; Hasadsri, Linda; Rowsey, Ross A; Hoppman, Nicole L.
Affiliation
  • Polonis K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Lopes JL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Cabral H; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Babcock HE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Kline L; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.
  • Ruiz KM; Women's Health and Genetics, Laboratory Corporation of America, Burlington, North Carolina, USA.
  • Schwartz S; Valley Children's Healthcare, Madera, California, USA.
  • Hasadsri L; Women's Health and Genetics, Laboratory Corporation of America, Burlington, North Carolina, USA.
  • Rowsey RA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Hoppman NL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Am J Med Genet A ; 191(7): 1978-1983, 2023 07.
Article in En | MEDLINE | ID: mdl-37134191
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Aberrations / Uniparental Disomy Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Aberrations / Uniparental Disomy Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: United States Country of publication: United States