Your browser doesn't support javascript.
loading
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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-37311648
ABSTRACT
A short report with two affected siblings from consanguineous family born with intellectual disability, motor disability, language deficit, and hearing impairment and found to carry biallelic nonsense variant in KPTN gene known to be associated with KPTN gene related syndrome.
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pessoas com Deficiência / Transtornos Motores / Perda Auditiva / Deficiência Intelectual Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pessoas com Deficiência / Transtornos Motores / Perda Auditiva / Deficiência Intelectual Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article