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Items: 1 to 20 of 1013

1.
Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly
An-Lei Li, Ji-Qiang He, Lei Zeng, Yi-Qiao Hu, Min Wang, Jie-Yi Long, Si-Hua Chang, Jie-Yuan Jin, Rong Xiang
Front Genet. 2023; 14: 1035887. Published online 2023 Mar 3. doi: 10.3389/fgene.2023.1035887
PMCID:
PMC10020613
ArticlePDF–1.5M
2.
Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly
Liying Sun, Yingzhao Huang, Sen Zhao, Wenyao Zhong, Jile Shi, Yang Guo, Junhui Zhao, Ge Xiong, Yuehan Yin, Zefu Chen, Nan Zhang, Zongxuan Zhao, Qingyang Li, Dan Chen, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Wen Tian, Nan Wu
Front Genet. 2022; 13: 804202. Published online 2022 Mar 10. doi: 10.3389/fgene.2022.804202
PMCID:
PMC8960307
ArticlePDF–1.1M
3.
Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
Hiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, Ryo Inuzuka, Yuki Taniguchi, Kristine Joyce Porto, Hiroyuki Ishiura, Jun Mitsui, Hiroyuki Morita, Issei Komuro
Clin Case Rep. 2022 Feb; 10(2): e05335. Published online 2022 Feb 9. doi: 10.1002/ccr3.5335
PMCID:
PMC8826123
ArticlePDF–562K
4.
Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly
Jiayong Qiu, Yao Lou, Yingwei Zhu, Min Wang, Huifang Peng, Yingying Hao, Hongwei Jiang, Yimin Mao
Front Genet. 2021; 12: 768342. Published online 2022 Jan 19. doi: 10.3389/fgene.2021.768342
PMCID:
PMC8807514
ArticlePDF–1.5M
5.
A 36-Year-Old Female With Congenital Contractural Arachnodactyly and Pectus Excavatum Requiring Fourth-Time Redo Surgical Correction
Rachel S Dada, Jeremiah W Hayanga, Mir Ali Abbas Khan, Alper Toker, Heather K Hayanga
Cureus. 2021 Jul; 13(7): e16701. Published online 2021 Jul 28. doi: 10.7759/cureus.16701
PMCID:
PMC8397513
ArticlePDF–745K
6.
Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly
Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang
Mol Genet Genomic Med. 2021 Apr; 9(4): e1638. Published online 2021 Feb 27. doi: 10.1002/mgg3.1638
PMCID:
PMC8123754
ArticlePDF–895K
7.
Congenital contractural arachnodactyly suspected by abnormally long extremities by fetal ultrasound
Ryuta Miyake, Mayuko Ichikawa, Katsuhiko Naruse
BMJ Case Rep. 2021; 14(3): e237904. Published online 2021 Mar 1. doi: 10.1136/bcr-2020-237904
PMCID:
PMC7929828
ArticlePDF–716K
8.
A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly
Peiwen Xu, Ruirui Li, Sexin Huang, Menghan Sun, Jiaolong Liu, Yuping Niu, Yang Zou, Jie Li, Ming Gao, Xiaolei Li, Xuan Gao, Yuan Gao
Front Genet. 2020; 11: 143. Published online 2020 Feb 28. doi: 10.3389/fgene.2020.00143
PMCID:
PMC7058790
ArticlePDF–1.1M
9.
A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly 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
Clin Case Rep. 2018 Aug; 6(8): 1612–1617. Published online 2018 Jul 3. doi: 10.1002/ccr3.1693
PMCID:
PMC6099051
ArticlePDF–398K
10.
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly
Guoling You, Bailing Zu, Bo Wang, Zhigang Wang, Yunlan Xu, Qihua Fu
Int J Mol Sci. 2017 Apr; 18(4): 626. Published online 2017 Apr 5. doi: 10.3390/ijms18040626
PMCID:
PMC5412266
ArticlePDF–8.4M
11.
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly
Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi, Xinmin Li
BMC Med Genet. 2016; 17: 91. Published online 2016 Dec 3. doi: 10.1186/s12881-016-0355-6
PMCID:
PMC5135809
ArticlePDF–5.7M
12.
The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Wanjun Wang, Jie Li, Guijun Yan, Haixiang Sun
J Assist Reprod Genet. 2016 Nov; 33(11): 1459–1466. Published online 2016 Jul 9. doi: 10.1007/s10815-016-0760-y
PMCID:
PMC5125142
ArticlePDF–2.9M
13.
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
Virendra Mehar, Dinesh Yadav, Ravindra Kumar, Summi Yadav, Kuldeep Singh, Bert Callewaert, Shahnawaz Pathan, Anne De Paepe, Paul J. Coucke
J Pediatr Genet. 2014 Sep; 3(3): 163–166. doi: 10.3233/PGE-14093
PMCID:
PMC5020994
SummaryPDF–287K
14.
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing
Hao Deng, Qian Lu, Hongbo Xu, Xiong Deng, Lamei Yuan, Zhijian Yang, Yi Guo, Qiongfen Lin, Jingjing Xiao, Liping Guan, Zhi Song
PLoS One. 2016; 11(5): e0155908. Published online 2016 May 19. doi: 10.1371/journal.pone.0155908
PMCID:
PMC4873217
ArticlePDF–1.1M
15.
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly
Wei Liu, Ning Zhao, Xue-fu Li, Hong Wang, Yu Sui, Yong-ping Lu, Wen-hua Feng, Chao Ma, Wei-tian Han, Miao Jiang
FEBS Open Bio. 2015; 5: 163–166. Published online 2015 Mar 5. doi: 10.1016/j.fob.2015.02.005
PMCID:
PMC4359973
ArticlePDF–1.2M
16.
Pulmonary Nontuberculous Mycobacterial Infection in Congenital Contractural Arachnodactyly
Michelle L. Paulson, Kenneth N. Olivier, Steven M. Holland
Int J Tuberc Lung Dis. Author manuscript; available in PMC 2013 Aug 4.
Published in final edited form as: Int J Tuberc Lung Dis. 2012 Apr; 16(4): 561–563. doi: 10.5588/ijtld.11.0301
PMCID:
PMC3732819
ArticlePDF–398K
17.
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
M. Wang, C. L. Clericuzio, M. Godfrey
Am J Hum Genet. 1996 Nov; 59(5): 1027–1034.
PMCID:
PMC1914850
SummaryPage BrowsePDF–2.0M
18.
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.
C Maslen, D Babcock, M Raghunath, B Steinmann
Am J Hum Genet. 1997 Jun; 60(6): 1389–1398. doi: 10.1086/515472
PMCID:
PMC1716103
SummaryPage BrowsePDF–2.1M
19.
Cardiac anomalies complicating congenital contractural arachnodactyly.
A J Macnab, L D'Orsogna, D E Cole, P E Baguley, R J Adderley, M W Patterson
Arch Dis Child. 1991 Oct; 66(10 Spec No): 1143–1146. doi: 10.1136/adc.66.10_spec_no.1143
PMCID:
PMC1590273
SummaryPage BrowsePDF–1.4M
20.
Congenital contractural arachnodactyly (Beals syndrome)
Ergül Tunçbilek, Yasemin Alanay
Orphanet J Rare Dis. 2006; 1: 20. Published online 2006 Jun 1. doi: 10.1186/1750-1172-1-20
PMCID:
PMC1524931
ArticlePDF–182K

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