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首页> BMC medical genetics> Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

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作者： Katta Mohan,Girisha ^[1] ; Abdul Mueed,Bidchol ^[1] ; Luitgard,Graul-Neumann ^[2] ; Ashish,Gupta ^[1] ; Ute,Hehr ^[3] ; Davor,Lessel ^[4] ; Sean,Nader ^[5] ; Hitesh,Shah ^[6] ; Julia,Wickert ^[4] ; Kerstin,Kutsche ^[7]

作者单位： Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India. ^[1] Ambulantes Gesundheitszentrum der Charité, Campus Virchow, Humangenetik, Universitätsmedizin Berlin, Berlin, Germany. ^[2] Center for and Department of Human Genetics, University of Regensburg, Regensburg, Germany. ^[3] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. ^[4] Kinderorthopädie, Schön Klinik Vogtareuth, Prien am Chiemsee, Germany. ^[5] Pediatric Orthopedic Services, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India. ^[6] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. kkutsche@uke.de. ^[7]

关键词 Autosomal-dominant FLNB Gain-of-function Larsen syndrome Mutation Pre-mRNA splicing

主题词成年人(Adult);等位基因(Alleles);儿童(Child);儿童, 学龄前(Child, Preschool);外显子(Exons);女(雌)性(Female);遗传异质性(Genetic Heterogeneity);基因型(Genotype);人类(Humans);男(雄)性(Male);骨软骨发育不良(Osteochondrodysplasias);表型(Phenotype);RNA, 信使(RNA, Messenger);序列分析, DNA(Sequence Analysis, DNA);序列缺失(Sequence Deletion)

DOI 10.1186/s12881-016-0290-6

PMID 27048506

发布时间 2018-11-13

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BMC medical genetics

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