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A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.
Bakar, Abu; Shams, Sulaiman; Bibi, Nousheen; Ullah, Asmat; Ahmad, Wasim; Jelani, Musharraf; Muthaffar, Osama Yousef; Abdulkareem, Angham Abdulrhman; Abujamel, Turki S; Haque, Absarul; Naseer, Muhammad Imran; Khan, Bushra.
Afiliação
  • Bakar A; Department of Biochemistry, Abdul Wali Khan University Mardan, Mardan 23200, Pakistan.
  • Shams S; Department of Biochemistry, Abdul Wali Khan University Mardan, Mardan 23200, Pakistan.
  • Bibi N; Department of Bioinformatics, Shaheed Benazir Bhutto Women University, Peshawar 25120, Pakistan.
  • Ullah A; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark.
  • Ahmad W; Department of Biochemistry, Quaid-I-Azam University, Islamabad 45320, Pakistan.
  • Jelani M; Department of Biochemistry, Quaid-I-Azam University, Islamabad 45320, Pakistan.
  • Muthaffar OY; Rare Diseases Genetics and Genomics, Centre for Omic Sciences, Islamia College Peshawar, Peshawar 25120, Pakistan.
  • Abdulkareem AA; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
  • Abujamel TS; Faculty of Science, Department of Biochemistry, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
  • Haque A; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
  • Naseer MI; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
  • Khan B; Vaccines and Immunotherapy Unit, King Fahd Medical Research Center, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Genes (Basel) ; 14(2)2023 02 17.
Article em En | MEDLINE | ID: mdl-36833437
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Deficiência Intelectual Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Paquistão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Deficiência Intelectual Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Paquistão