Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly-Reference-Cited by-同舟云学术

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly

Published:2016-12 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Guo Xingping,Song Chunying,Shi Yaping,Li Hongxia,Meng Weijing,Yuan Qinzhao,Xue Jinjie,Xie Jun,Liang Yunxia,Yuan Yanan,Yu Baofeng,Wang Huaixiu,Chen Yun,Qi Lixin,Li Xinmin

Funder

Shanxi Province Science and Technology Research Projects

Shanxi Provincial Health and Family Planning Research Projects

Shanxi Provincial Natural Science Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0355-6.pdf

Reference14 articles.

1. Epstein CJ, Graham CB, Hodgkin WE, Hecht F, Motulsky AG. Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears. J Pediatr. 1968;73:379–86.

2. Grenier B, Laugier J, Soutoul J, Desbuquois G. Marfan’s disease andarthrogryposis. Apropos of a case in a newborn infant. Ann Pediatr (Paris). 1969;16:182–6.

3. Beals RK, Hecht F. Congenital contractural arachnodactyly. A heritabledisorder of connective tissue. J Bone Joint Surg Am. 1971;53:987–93.

4. Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW. Linkage of Marfan syndrome and aphenotypically related disorder to two different fibrillin genes. Nature. 1991;352:330–4.

5. Tuncbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis. 2006;1:20.

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families;Molecular Genetics and Metabolism Reports;2024-12

2. A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly;Biochemical Genetics;2023-11-14

3. Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing;BMC Medical Genomics;2022-10-04

4. Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly;Frontiers in Genetics;2022-03-10

5. Comparative iTRAQ proteomics revealed proteins associated with horn development in yak;Proteome Science;2018-07-24