Uncommon FBN1 mutation in Marfan syndrome family with severe ectopia lentis

被引：0

作者：

Manning, M

Hyland, J

Kwan, A

Liang, D

Hudgins, L

机构：

[1] Stanford Univ, Stanford, CA 94305 USA

[2] Tulane Univ, Hlth Sci Ctr, New Orleans, LA 70118 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 73卷 / 05期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

724

引用

页码：293 / 293

页数：1

共 50 条

[31] Novel p.G1344E mutation in FBN1 is associated with ectopia lentis [J].

Yang, Yuan ;

Zhou, Ya-li ;

Yao, Teng-teng ;

Pan, Hui ;

Gu, Ping ;

Wang, Zhao-yang .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2021, 105 (03) :341-347

[32] Severe Marfan syndrome due to FBN1 exon deletions [J].

Blyth, Moira ;

Foulds, Nicola ;

Turner, Claire ;

Bunyan, David .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (10) :1320-1324

[33] Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene A case report [J].

Yoon, Su Hyun ;

Kong, Younghwa .

MEDICINE, 2021, 100 (06) :E24301

[34] Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China [J].

Su-Zhen Tang ;

Ya-Ning Liu ;

Shao-Hua Hu ;

Hao Chen ;

Hui Zhao ;

Xue-Mei Feng ;

Xiao-Jing Pan ;

Peng Chen .

International Journal of Ophthalmology, 2019, (11) :1674-1679

[35] Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family [J].

Fu, Qing ;

Liu, Peng ;

Lu, Qingsheng ;

Wang, Feng ;

Wang, Hui ;

Shen, Wei ;

Xu, Fei ;

Liu, Lin ;

Sergeev, Yuri V. ;

Sui, Ruifang .

MOLECULAR VISION, 2014, 20 :812-821

[36] A novel FBN1 mutation causes autosomal dominant Marfan syndrome [J].

Xiao, Ying ;

Liu, Xiaoqi ;

Guo, Xiaoxin ;

Liu, Liping ;

Jiang, Linxin ;

Wang, Qi ;

Gong, Bo .

MOLECULAR MEDICINE REPORTS, 2017, 16 (05) :7321-7328

[37] Family history of aortic dissection is not a risk factor in Marfan syndrome with a FBN1 gene mutation [J].

Tchitchinadze, M. ;

Milleron, O. ;

Eliahou, L. ;

Jadoui, S. ;

Ouali, N. Ould ;

Hanna, N. ;

Arnaud, P. ;

Boileau, C. ;

Gouya, L. ;

Jondeau, G. .

EUROPEAN HEART JOURNAL, 2021, 42 :2009-2009

[38] Role of ADAMTSL4 Mutations in FBN1 Mutation-negative Ectopia Lentis Patients [J].

Aragon-Martin, Jose Antonio ;

Ahnood, Dana ;

Charteris, David G. ;

Saggar, Anand ;

Nischal, Ken K. ;

Comeglio, Paolo ;

Chandra, Aman ;

Child, Anne H. ;

Arno, Gavin .

HUMAN MUTATION, 2010, 31 (08) :E1622-E1631

[39] Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China [J].

Tang, Su-Zhen ;

Liu, Ya-Ning ;

Hu, Shao-Hua ;

Chen, Hao ;

Zhao, Hui ;

Feng, Xue-Mei ;

Pan, Xiao-Jing ;

Chen, Peng .

INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2019, 12 (11) :1674-1679

[40] A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome [J].

Yin, Y. ;

Liu, X. -H. ;

Li, X. -H. ;

Fan, N. ;

Lei, D. -F. ;

Wang, Y. ;

Cai, S. -P. ;

Zhou, X. -M. ;

Chen, X. -M. ;

Liu, X. -Y. .

GENETICS AND MOLECULAR RESEARCH, 2015, 14 (02) :4125-4132

← 1 2 3 4 5 →