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FLNB haploinsufficiency-related short stature:a new syndrome or an expanded spectrum of Larsen syndrome

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摘要FLNB encodes the protein filamin B(FLNB),which is expressed in chondrocytes of the human growth plate[1].To date,pathogenic mutations in the FLNB gene have solely been found to cause skeletal deformities,indicating the cru-cial role of FLNB in skeletal development.FLNB-related disorders include spondylocarpotarsal synostosis(SCT,OMIM:272,460),Larsen syndrome(LS,OMIM:150,250),atelosteogenesis type I(OMIM:108,720),atelosteogen-esis type Ⅲ(OMIM:108,721),and boomerang dysplasia(OMIM:112,310).

作者 Qing Wang ^[1] Hong-Ying Wang ^[2] Shui-Yan Wu ^[3] Xue-Qian Wang ^[2] Hai-Ying Wu ^[1] Rong-Rong Xie ^[1] Feng-Yun Wang ^[1] Xiu-Li Chen ^[1] Lin-Qi Chen ^[1] Hai-Tao Lv ^[4] Ting Chen ^[5] 学术成果认领

作者单位 Department of Endocrinology,Genetics and Metabolism,Children's Hospital of Soochow University,Suzhou,China ^[1] Suzhou Clinical Center for Rare Diseases in Children,Children's Hospital of Soochow University,Suzhou,China ^[2] Intensive Care Unit,Children's Hospital of Soochow University,Suzhou,China ^[3] Suzhou Clinical Center for Rare Diseases in Children,Children's Hospital of Soochow University,Suzhou,China;Department of Cardiology,Children's Hospital of Soochow University,Suzhou,China ^[4] Department of Endocrinology,Genetics and Metabolism,Children's Hospital of Soochow University,Suzhou,China;Suzhou Clinical Center for Rare Diseases in Children,Children's Hospital of Soochow University,Suzhou,China;Department of Pediatrics,Kunshan Sixth People's Hospital,Suzhou,Jiangsu,China ^[5]

栏目名称

Research letter

DOI 10.1007/s12519-024-00832-z

发布时间 2024-10-29（万方平台首次上网日期，不代表论文的发表时间）

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