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A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
Youssefian, Leila; Vahidnezhad, Hassan; Saeidian, Amir Hossein; Mahmoudi, Hamidreza; Karamzadeh, Razieh; Kariminejad, Ariana; Huang, Jianhe; Li, Leping; Jannace, Thomas F; Fortina, Paolo; Zeinali, Sirous; White, Thomas W; Uitto, Jouni.
Afiliação
  • Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
  • Vahidnezhad H; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Saeidian AH; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
  • Mahmoudi H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
  • Karamzadeh R; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
  • Kariminejad A; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
  • Huang J; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
  • Li L; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Jannace TF; Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.
  • Fortina P; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
  • Zeinali S; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
  • White TW; Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY, USA.
  • Uitto J; Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY, USA.
Hum Mutat ; 40(2): 217-229, 2019 02.
Article em En | MEDLINE | ID: mdl-30431684
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ceratodermia Palmar e Plantar / Conexinas / Perda Auditiva Neurossensorial / Ictiose Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ceratodermia Palmar e Plantar / Conexinas / Perda Auditiva Neurossensorial / Ictiose Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos