Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

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第一作者： Madeline Louise,Reilly

第一单位： 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.

作者： Madeline Louise,Reilly ^[1] ; Noor Ul,Ain ^[2] ; Mari,Muurinen ^[3] ; Alice,Tata ^[4] ; Céline,Huber ^[5] ; Marleen,Simon ^[6] ; Tayyaba,Ishaq ^[1] ; Nick,Shaw ^[7] ; Salla,Rusanen ^[8] ; Minna,Pekkinen ^[9] ; Wolfgang,Högler ^[2] ; Maarten F C M,Knapen ^[10] ; Myrthe,van den Born ^[11] ; Sophie,Saunier ^[4] ; Sadaf,Naz ^[4] ; Valérie,Cormier-Daire ^[5] ; Alexandre,Benmerah ^[6] ; Outi,Makitie ^[11]

作者单位： 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. ^[1] School of Biological Sciences, University of the Punjab, Lahore, Pakistan. ^[2] Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. ^[3] Folkhälsan Research Center, Helsinki, Finland. ^[4] Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. ^[5] Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland. ^[6] 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. ^[7] Department of Genetics, Reference Centre for Skeletal Dysplasia, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France. ^[8] Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. ^[9] Department of Endocrinology & Diabetes, Birmingham Children's Hospital, Birmingham, UK. ^[10] Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK. ^[11] Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria. ^[12] Department of Obstetrics and Fetal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands. ^[13] Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. ^[14]

关键词 ACROMESOMELIC DYSPLASIA CILIOPATHIES KINESIN PRIMARY CILIA SKELETAL DYSPLASIA

主题词动物(Animals);侏儒症(Dwarfism);人类(Humans);突变(Mutation);骨软骨发育不良(Osteochondrodysplasias);系谱(Pedigree);表型(Phenotype)

DOI 10.1002/jbmr.4639

PMID 35748595

发布时间 2022-10-15

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