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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Singh, Ram; Cohen, Ana S A; Poulton, Cathryn; Hjortshøj, Tina Duelund; Akahira-Azuma, Moe; Mendiratta, Geetu; Khan, Wahab A; Azmanov, Dimitar N; Woodward, Karen J; Kirchhoff, Maria; Shi, Lisong; Edelmann, Lisa; Baynam, Gareth; Scott, Stuart A; Jabs, Ethylin Wang.
Afiliação
  • Singh R; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
  • Cohen ASA; Sema4, Stamford, Connecticut 06902, USA.
  • Poulton C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
  • Hjortshøj TD; Sema4, Stamford, Connecticut 06902, USA.
  • Akahira-Azuma M; Genetic Service of Western Australia, King Edward Memorial Hospital, Perth, Western Australia 6008, Australia.
  • Mendiratta G; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
  • Khan WA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
  • Azmanov DN; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
  • Woodward KJ; Sema4, Stamford, Connecticut 06902, USA.
  • Kirchhoff M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
  • Shi L; Sema4, Stamford, Connecticut 06902, USA.
  • Edelmann L; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.
  • Baynam G; Pathology and Laboratory Medicine, Medical School, Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, Western Australia 6009, Australia.
  • Scott SA; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.
  • Jabs EW; Pathology and Laboratory Medicine, Medical School, Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, Western Australia 6009, Australia.
Cold Spring Harb Mol Case Stud ; 7(3)2021 06.
Article em En | MEDLINE | ID: mdl-34117072
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Crânio / Deleção de Genes / Predisposição Genética para Doença Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Crânio / Deleção de Genes / Predisposição Genética para Doença Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article