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Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.
Khalil, Athar; Karroum, Samer Bou; Barake, Rana; Dunya, Gabriel; Abou-Rizk, Samer; Kamar, Amina; Nemer, Georges; Bassim, Marc.
Afiliação
  • Khalil A; Departments of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
  • Karroum SB; Departments of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
  • Barake R; Otolaryngology - Head and Neck Surgery, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
  • Dunya G; Otolaryngology - Head and Neck Surgery, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
  • Abou-Rizk S; Otolaryngology - Head and Neck Surgery, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
  • Kamar A; Departments of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
  • Nemer G; Departments of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut, Beirut, Lebanon. gn08@aub.edu.lb.
  • Bassim M; Genomics and Precision Medicine Program, College of Health and Life Siences, Hamad Bin Khalifa University, Doha, Qatar. gn08@aub.edu.lb.
BMC Med Genet ; 21(1): 1, 2020 01 02.
Article em En | MEDLINE | ID: mdl-31898538
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miosinas / Heterogeneidade Genética / Fator de Transcrição Associado à Microftalmia / Perda Auditiva Neurossensorial Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miosinas / Heterogeneidade Genética / Fator de Transcrição Associado à Microftalmia / Perda Auditiva Neurossensorial Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article