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Select item 70587901.

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

Abstract Article PDF–1.1M

Select item 15249312.

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

Abstract Article PDF–182K

Select item 15902733.

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

Summary Page Browse PDF–1.4M

Select item 60744734.

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

Seda Orenay-Boyacioglu, Mustafa Tekin, Munis Dundar

Ann Saudi Med. 2015 Nov-Dec; 35(6): 462–467. doi: 10.5144/0256-4947.2015.462

PMCID:: PMC6074473

Abstract Article PDF–330K

Select item 60990515.

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

Abstract Article PDF–398K

Select item 43599736.

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

Abstract Article PDF–1.2M

Select item 17161037.

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

Summary Page Browse PDF–2.1M

Select item 37328198.

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

Abstract Article PDF–398K

Select item 89603079.

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

Abstract Article PDF–1.1M

Select item 513580910.

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

Abstract Article PDF–5.7M

Select item 882612311.

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