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Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.
Hussain, Shabir; Ji, Weizhen; Khan, Hammal; Mis, Emily K; Mushtaq, Rabiha; Chodhary, Mirub; Raza, Muhammad Hassan; Jan, Abid; Ullah, Imran; Khokha, Mustafa K; Lakhani, Saquib A; Ahmad, Wasim.
Afiliación
  • Abdullah; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
  • Hussain S; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Ji W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
  • Khan H; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Mis EK; Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan.
  • Mushtaq R; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Chodhary M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
  • Raza MH; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
  • Jan A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
  • Ullah I; Department of Biotechnology and Genetic Engineering, Kohat University of Science &Technology (KUST), Kohat, Pakistan.
  • Khokha MK; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
  • Lakhani SA; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Ahmad W; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Clin Genet ; 105(1): 109-111, 2024 01.
Article en En | MEDLINE | ID: mdl-37776184
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Deformidades Congénitas de las Extremidades / Proteínas de Homeodominio / Proteínas con Repetición de beta-Transducina Límite: Humans Idioma: En Revista: Clin Genet / Clin. genet / Clinical genetics Año: 2024 Tipo del documento: Article País de afiliación: Pakistán
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Deformidades Congénitas de las Extremidades / Proteínas de Homeodominio / Proteínas con Repetición de beta-Transducina Límite: Humans Idioma: En Revista: Clin Genet / Clin. genet / Clinical genetics Año: 2024 Tipo del documento: Article País de afiliación: Pakistán