Results 1 to 10 of about 1,472 (192)

Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene [PDF]

Clinical Case Reports, 2022
Congenital contractural arachnodactyly (CCA) is caused by pathogenic FBN2 variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown.
Hiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, Ryo Inuzuka, Yuki Taniguchi, Kristine Joyce Porto, Hiroyuki Ishiura, Jun Mitsui, Hiroyuki Morita, Issei Komuro   +9 more
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Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2).
Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang   +6 more
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A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly [PDF]

Frontiers in Genetics, 2020
Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide.
Peiwen Xu, Peiwen Xu, Peiwen Xu, Ruirui Li, Ruirui Li, Ruirui Li, Sexin Huang, Sexin Huang, Sexin Huang, Menghan Sun, Jiaolong Liu, Jiaolong Liu, Jiaolong Liu, Yuping Niu, Yuping Niu, Yuping Niu, Yang Zou, Yang Zou, Yang Zou, Jie Li, Jie Li, Jie Li, Ming Gao, Ming Gao, Ming Gao, Xiaolei Li, Xiaolei Li, Xiaolei Li, Xuan Gao, Xuan Gao, Xuan Gao, Yuan Gao, Yuan Gao, Yuan Gao   +33 more
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Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly [PDF]

Frontiers in Genetics, 2023
Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
An-Lei Li, An-Lei Li, Ji-Qiang He, Ji-Qiang He, Lei Zeng, Lei Zeng, Yi-Qiao Hu, Yi-Qiao Hu, Yi-Qiao Hu, Min Wang, Min Wang, Jie-Yi Long, Si-Hua Chang, Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Rong Xiang, Rong Xiang, Rong Xiang, Rong Xiang   +19 more
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Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly [PDF]

Frontiers in Genetics, 2022
Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-
Liying Sun, Yingzhao Huang, Yingzhao Huang, Yingzhao Huang, Sen Zhao, Sen Zhao, Sen Zhao, Wenyao Zhong, Jile Shi, Jile Shi, Jile Shi, Yang Guo, Junhui Zhao, Ge Xiong, Yuehan Yin, Zefu Chen, Zefu Chen, Zefu Chen, Nan Zhang, Zongxuan Zhao, Qingyang Li, Dan Chen, Yuchen Niu, Yuchen Niu, Xiaoxin Li, Xiaoxin Li, Guixing Qiu, Guixing Qiu, Guixing Qiu, Zhihong Wu, Zhihong Wu, Zhihong Wu, Terry Jianguo Zhang, Terry Jianguo Zhang, Terry Jianguo Zhang, Wen Tian, Nan Wu, Nan Wu, Nan Wu   +38 more
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Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly [PDF]

Frontiers in Genetics, 2022
Background: Birt-Hogg-Dubé (BHD) syndrome and congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome are clinically rare autosomal dominant genetic diseases.
Jiayong Qiu, Yao Lou, Yingwei Zhu, Min Wang, Huifang Peng, Yingying Hao, Hongwei Jiang, Yimin Mao   +7 more
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A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly [PDF]

FEBS Open Bio, 2015
Congenital contractural arachnodactyly (CCA, OMIM:121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM:154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and ...
Wei Liu, Ning Zhao, Xue-fu Li, Hong Wang, Yu Sui, Yong-ping Lu, Wen-hua Feng, Chao Ma, Wei-tian Han, Miao Jiang   +9 more
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Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. [PDF]

PLoS ONE, 2016
Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.
Hao Deng, Qian Lu, Hongbo Xu, Xiong Deng, Lamei Yuan, Zhijian Yang, Yi Guo, Qiongfen Lin, Jingjing Xiao, Liping Guan, Zhi Song   +10 more
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A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family [PDF]

Clinical Case Reports, 2018
Key Clinical Message We identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN2 that cosegregated with congenital contractural arachnodactyly (CCA) in a five‐generation Chinese family.
Shiyuan Zhou, Fengyu Wang, Yongheng Dou, Jiping Zhou, Gefang Hao, Chengqi Xu, Qing K. Wang, Haili Wang, Pengyun Wang   +8 more
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FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations [PDF]

Molecular Genetics and Metabolism Reports
Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 (FBN2) gene, characterized by crumpled ears, arachnodactyly, camptodactyly, dolichostenomelia, large ...
Yazhou Huang, Xingxin Fang, Linya Ma, Jibo Zhang, Chao Wang, Taoran Gao, Dan Peng   +6 more
doaj   +4 more sources