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Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Bhola, Priya T; Mishra, Radha; Posey, Jennifer E; Hamilton, Leslie E; Graham, Gail E; Punetha, Jaya; Lupski, James R; Boycott, Kym M; D'Amours, Damien; Kernohan, Kristin D.
Afiliação
  • Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Mishra R; Department of Cellular and Molecular Medicine, Ottawa Institute of Systems Biology, University of Ottawa, Ottawa, Canada.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Hamilton LE; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Canada.
  • Graham GE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Boycott KM; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • D'Amours D; Texas Children's Hospital, Houston, Texas, USA.
  • Kernohan KD; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Am J Med Genet A ; 194(3): e63455, 2024 Mar.
Article em En | MEDLINE | ID: mdl-37921537
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cinesinas / Doenças do Sistema Nervoso Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cinesinas / Doenças do Sistema Nervoso Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Canadá