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Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
Haliloglu, Goknur; Becker, Kerstin; Temucin, Cagri; Talim, Beril; Küçüksahin, Nalan; Pergande, Matthias; Motameny, Susanne; Nürnberg, Peter; Aydingoz, Ustun; Topaloglu, Haluk; Cirak, Sebahattin.
Afiliação
  • Haliloglu G; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.
  • Becker K; Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
  • Temucin C; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  • Talim B; Department of Neurology, Hacettepe University, Ankara, Turkey.
  • Küçüksahin N; Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
  • Pergande M; Department of Neurology, Hacettepe University, Ankara, Turkey.
  • Motameny S; Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
  • Nürnberg P; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  • Aydingoz U; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Topaloglu H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Cirak S; Department of Radiology, Hacettepe University, Ankara, Turkey.
J Hum Genet ; 62(4): 497-501, 2017 Apr.
Article em En | MEDLINE | ID: mdl-27974811
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Escoliose / Distúrbios Somatossensoriais / Canais Iônicos Tipo de estudo: Etiology_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Escoliose / Distúrbios Somatossensoriais / Canais Iônicos Tipo de estudo: Etiology_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article