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A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.
Faryal, Sanam; Farooq, Muhammad; Abdullah, Uzma; Ali, Zafar; Saadi, Saadia Maryam; Ullah, Farid; Khan, Kamal; Sarwar, Yasra; Sher, Muhammad; Chopra, Anuja Arora; Tommerup, Niels; Baig, Shahid M.
Afiliación
  • Faryal S; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Farooq M; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark; Department of Biochemistry and Biotechnology, The Islamia University of Bahawalpur, Bahawalpur, Pakistan.
  • Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS Arid Agriculture University, Rawalpindi, Pakistan. Electronic address: uzma.abdullah@uaar.edu.pk.
  • Ali Z; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Saadi SM; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Ullah F; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Khan K; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Sarwar Y; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Sher M; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan.
  • Chopra AA; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Baig SM; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad, Pakistan. Electronic address: shahid_baig2002@yahoo.com.
Eur J Med Genet ; 64(7): 104226, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33872773
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Factor 5 de Diferenciación de Crecimiento / Braquidactilia / Anomalías Musculoesqueléticas Límite: Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Dinamarca
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Factor 5 de Diferenciación de Crecimiento / Braquidactilia / Anomalías Musculoesqueléticas Límite: Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Dinamarca