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Biallelic variants in RNU12 cause CDAGS syndrome.
Xing, Chao; Kanchwala, Mohammed; Rios, Jonathan J; Hyatt, Tommy; Wang, Richard C; Tran, An; Dougherty, Irene; Tovar-Garza, Andrea; Purnadi, Christy; Kumar, Monique G; Berk, David; Shinawi, Marwan; Irvine, Alan D; Toledo-Bahena, Mirna; Agim, Nnenna G; Glass, Donald A.
Afiliação
  • Xing C; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Kanchwala M; Department of Bioinformatics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Rios JJ; Department of Population and Data Sciences, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Hyatt T; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Wang RC; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Tran A; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA.
  • Dougherty I; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Tovar-Garza A; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Purnadi C; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Kumar MG; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Berk D; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Shinawi M; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Irvine AD; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Toledo-Bahena M; Department of Dermatology, Washington University School of Medicine in Saint Louis, Saint Louis, Missouri, USA.
  • Agim NG; Department of Dermatology, Washington University School of Medicine in Saint Louis, Saint Louis, Missouri, USA.
  • Glass DA; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in Saint Louis, Saint Louis, Missouri, USA.
Hum Mutat ; 42(8): 1042-1052, 2021 08.
Article em En | MEDLINE | ID: mdl-34085356

Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA Nuclear Pequeno / Poroceratose / Craniossinostoses / Anormalidades do Sistema Digestório Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA Nuclear Pequeno / Poroceratose / Craniossinostoses / Anormalidades do Sistema Digestório Idioma: En Ano de publicação: 2021 Tipo de documento: Article