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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
Acharya, Anushree; Raza, Syed Irfan; Anwar, Muhammad Zeeshan; Bharadwaj, Thashi; Liaqat, Khurram; Khokhar, Muhammad Akram Shahzad; Everard, Jenna L; Nasir, Abdul; Nickerson, Deborah A; Bamshad, Michael J; Ansar, Muhammad; Schrauwen, Isabelle; Ahmad, Wasim; Leal, Suzanne M.
Afiliação
  • Acharya A; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Raza SI; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Anwar MZ; Department of Biochemistry, HBS Medical and Dental College, Islamabad, Pakistan.
  • Bharadwaj T; Department of Biochemistry, CMH Kharian Medical College, Punjab, Pakistan.
  • Liaqat K; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Khokhar MAS; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Everard JL; Major Shabbir Sharif Shaheed Hospital, THQ Level, Kunjah, Gujrat, Punjab, Pakistan.
  • Nasir A; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Ansar M; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
  • Schrauwen I; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Leal SM; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
J Hum Genet ; 66(10): 1009-1018, 2021 Oct.
Article em En | MEDLINE | ID: mdl-33879837
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Wolfram / Atrofia Óptica / Proteína Quinase CDC2 / Predisposição Genética para Doença / Surdez Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
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: Síndrome de Wolfram / Atrofia Óptica / Proteína Quinase CDC2 / Predisposição Genética para Doença / Surdez Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido