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首页> Clinical genetics> Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

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作者： S,Salian ^[1] ; A,Shukla ^[1] ; H,Shah ^[2] ; S N,Bhat ^[2] ; V R,Bhat ^[1] ; S,Nampoothiri ^[3] ; R,Shenoy ^[4] ; S R,Phadke ^[5] ; S V,Hariharan ^[6] ; K M,Girisha ^[1]

作者单位： Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India. ^[1] Department of Orthopedics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India. ^[2] Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India. ^[3] Department of Pediatrics, KS Hegde Medical Academy, Mangalore, Karnataka, India. ^[4] Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. ^[5] Department of Pediatrics, Sree Avittom Thirunal Hospital, Government Medical College, Trivandrum, Kerala, India. ^[6]

关键词 FLNB carpal coalition spondylocarpotarsal synostosis syndrome vertebral segmentation defects

主题词畸形, 多发性(Abnormalities, Multiple);等位基因(Alleles);儿童, 学龄前(Child, Preschool);女(雌)性(Female);遗传变异(Genetic Variation);基因型(Genotype);人类(Humans);婴儿(Infant);腰椎(Lumbar Vertebrae);男(雄)性(Male);肌骨骼疾病(Musculoskeletal Diseases);系谱(Pedigree);表型(Phenotype);放射摄影术(Radiography);脊柱侧凸(Scoliosis);综合征(Syndrome);骨结合(Synostosis);胸椎(Thoracic Vertebrae)

DOI 10.1111/cge.13252

PMID 29566257

发布时间 2019-10-24

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Clinical genetics

Clinical genetics

2018年94卷1期

159-164页

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2018年94卷1期

159-164页

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