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Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.
Liaqat, Khurram; Bharadwaj, Thashi; Shah, Khadim; Nasir, Abdul; Acharya, Anushree; Khan, Saadullah; Ullah, Irfan; Schrauwen, Isabelle; Ahmad, Wasim; Leal, Suzanne M.
Afiliación
  • Liaqat K; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.
  • Bharadwaj T; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.
  • Shah K; Department of Biotechnology, COMSATS University Islamabad, Islamabad, Khyber Pakhtunkhwa, Pakistan.
  • Nasir A; Department of Anesthesiology, Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
  • Acharya A; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.
  • Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • Ullah I; Department of Chemistry, Shaheed Benazir Bhutto University, Sheringal, Pakistan.
  • Schrauwen I; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.
  • Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
  • Leal SM; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, New York, USA.
Clin Genet ; 104(4): 499-501, 2023 10.
Article en En | MEDLINE | ID: mdl-37311648
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Personas con Discapacidad / Trastornos Motores / Pérdida Auditiva / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Personas con Discapacidad / Trastornos Motores / Pérdida Auditiva / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos