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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
Reilly, Madeline Louise; Ain, Noor Ul; Muurinen, Mari; Tata, Alice; Huber, Céline; Simon, Marleen; Ishaq, Tayyaba; Shaw, Nick; Rusanen, Salla; Pekkinen, Minna; Högler, Wolfgang; Knapen, Maarten F C M; van den Born, Myrthe; Saunier, Sophie; Naz, Sadaf; Cormier-Daire, Valérie; Benmerah, Alexandre; Makitie, Outi.
Afiliação
  • Reilly ML; Imagine Institute, Laboratory of Inherited Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (INSERM) Unités Mixtes de Recherche (UMR) 1163, Université Paris Cité, Paris, France.
  • Ain NU; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
  • Muurinen M; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Tata A; Folkhälsan Research Center, Helsinki, Finland.
  • Huber C; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Simon M; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.
  • Ishaq T; Imagine Institute, Laboratory of Inherited Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (INSERM) Unités Mixtes de Recherche (UMR) 1163, Université Paris Cité, Paris, France.
  • Shaw N; Imagine Institute, Laboratory of Molecular and Physiopathological bases of Osteochondrodysplasia, Institut National de la Santé et de la Recherche Médicale (INSERM) Unités Mixtes de Recherche (UMR) 1163, Université Paris Cité, Paris, France.
  • Rusanen S; Department of Genetics, Reference Centre for Skeletal Dysplasia, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France.
  • Pekkinen M; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Högler W; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
  • Knapen MFCM; Department of Endocrinology & Diabetes, Birmingham Children's Hospital, Birmingham, UK.
  • van den Born M; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
  • Saunier S; Folkhälsan Research Center, Helsinki, Finland.
  • Naz S; Folkhälsan Research Center, Helsinki, Finland.
  • Cormier-Daire V; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Benmerah A; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.
  • Makitie O; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.
J Bone Miner Res ; 37(9): 1642-1652, 2022 09.
Article em En | MEDLINE | ID: mdl-35748595
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Ciliopatias Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Ciliopatias Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França