Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus-Reference-Cited by-同舟云学术

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Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus

Published:2016-07-09 Issue:10 Volume:135 Page:1181-1189
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Yang Haiou,Zheng Zhaojing,Cai Haiqing,Li Huimin,Ye Xingchen,Zhang Xiaoqing,Wang Zhigang,Fu Qihua

Funder

Pudong New Area of Science and Technology Development Fund

Shanghai Jiao Tong University School of Medicine Science Fund

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-016-1701-7.pdf

Reference42 articles.

1. Bacino CA, Hecht JT (2014) Etiopathogenesis of equinovarus foot malformations. Eur J Med Genet 57:473–479. doi: 10.1016/j.ejmg.2014.06.001

2. Bicknell LS, Morgan T, Bonafe L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP (2005) Mutations in FLNB cause boomerang dysplasia. J Med Genet 42:e43. doi: 10.1136/jmg.2004.029967

3. Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP (2007) A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet 44:89–98. doi: 10.1136/jmg.2006.043687

4. Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK (2012) Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 4:118ra10. doi: 10.1126/scitranslmed.3003310

5. Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A (2013) Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci USA 110:4667–4672. doi: 10.1073/pnas.1221400110

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