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SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.
Bieganski, Tadeusz; Beighton, Peter; Lukaszewski, Maciej; Bik, Krzysztof; Kuszel, Lukasz; Wasilewska, Ewa; Kozlowski, Kazimierz; Czarny-Ratajczak, Malwina.
Afiliação
  • Bieganski T; Department of Diagnostic Imaging, Polish Mother(')s Memorial Hospital - Research Institute, Lodz, Poland.
  • Beighton P; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Lukaszewski M; Department of Diagnostic Imaging, Polish Mother(')s Memorial Hospital - Research Institute, Lodz, Poland.
  • Bik K; Department of Orthopaedics, Polish Mother(')s Memorial Hospital - Research Institute, Lodz, Poland.
  • Kuszel L; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Wasilewska E; Department of Radiology, Children's Hospital, New Orleans, USA.
  • Kozlowski K; Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, Australia.
  • Czarny-Ratajczak M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; Department of Medicine, Center for Aging, Tulane University, School of Medicine, New Orleans, LA, USA. Electronic address: mczarnyr@tulane.edu.
Eur J Med Genet ; 60(10): 509-516, 2017 Oct.
Article em En | MEDLINE | ID: mdl-28687525
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Artrogripose / Anormalidades Múltiplas / Ossificação Heterotópica / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Canais de Cátion TRPV Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Artrogripose / Anormalidades Múltiplas / Ossificação Heterotópica / Anormalidades Craniofaciais / Mutação de Sentido Incorreto / Canais de Cátion TRPV Idioma: En Ano de publicação: 2017 Tipo de documento: Article