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Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Melas, Marilena; Kautto, Esko A; Franklin, Samuel J; Mori, Mari; McBride, Kim L; Mosher, Theresa Mihalic; Pfau, Ruthann B; Hernandez-Gonzalez, Maria Elena; McGrath, Sean D; Magrini, Vincent J; White, Peter; Samora, Julie Balch; Koboldt, Daniel C; Wilson, Richard K.
Afiliação
  • Melas M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Kautto EA; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Franklin SJ; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Mori M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • McBride KL; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.
  • Mosher TM; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Pfau RB; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.
  • Hernandez-Gonzalez ME; Center for Cardiovascular Research, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
  • McGrath SD; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Magrini VJ; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • White P; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.
  • Samora JB; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Koboldt DC; Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.
  • Wilson RK; Department of Pathology, The Ohio State University, Columbus, Ohio, USA.
Hum Mutat ; 43(2): 189-199, 2022 02.
Article em En | MEDLINE | ID: mdl-34859533

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Sindactilia / Proteínas de Homeodomínio Tipo de estudo: Observational_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Sindactilia / Proteínas de Homeodomínio Tipo de estudo: Observational_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos