Ehlers-Danlos syndromes

被引:43
作者
Ghali, Neeti [1 ]
Sobey, Glenda [2 ]
Burrows, Nigel
机构
[1] London North West Univ Healthcare NHS Trust, North West Thames Reg Genet Serv & Natl EDS Serv, Harrow HA1 3UJ, Middx, England
[2] Sheffield Childrens NHS Fdn Trust, Natl EDS Serv, Sheffield, S Yorkshire, England
来源
BMJ-BRITISH MEDICAL JOURNAL | 2019年 / 366卷
关键词
CLASSIFICATION; HYPERMOBILITY; NOSOLOGY;
D O I
10.1136/bmj.l4966
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页数:11
相关论文
共 18 条
[1]  
Beighton P, 1998, AM J MED GENET, V77, P31, DOI 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.3.CO
[2]  
2-P
[3]   INTERNATIONAL NOSOLOGY OF HERITABLE DISORDERS OF CONNECTIVE-TISSUE, BERLIN, 1986 [J].
BEIGHTON, P ;
DEPAEPE, A ;
DANKS, D ;
FINIDORI, G ;
GEDDEDAHL, T ;
GOODMAN, R ;
HALL, JG ;
HOLLISTER, DW ;
HORTON, W ;
MCKUSICK, VA ;
OPITZ, JM ;
POPE, FM ;
PYERITZ, RE ;
RIMOIN, DL ;
SILLENCE, D ;
SPRANGER, JW ;
THOMPSON, E ;
TSIPOURAS, P ;
VILJOEN, D ;
WINSHIP, I ;
YOUNG, I .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (03) :581-594
[4]  
BEIGHTON P, 1969, Journal of Bone and Joint Surgery British Volume, V51-B, P444
[5]   Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome [J].
Blackburn, Patrick R. ;
Xu, Zhi ;
Tumelty, Kathleen E. ;
Zhao, Rose W. ;
Monis, William J. ;
Harris, Kimberly G. ;
Gass, Jennifer M. ;
Cousin, Margot A. ;
Boczek, Nicole J. ;
Mitkov, Mario V. ;
Cappel, Mark A. ;
Francomano, Clair A. ;
Parisi, Joseph E. ;
Klee, Eric W. ;
Faqeih, Eissa ;
Alkuraya, Fowzan S. ;
Layne, Matthew D. ;
McDonnell, Nazli B. ;
Atwal, Paldeep S. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (04) :696-705
[6]   Ehlers-Danlos Syndrome, Classical Type [J].
Bowen, Jessica M. ;
Sobey, Glenda J. ;
Burrows, Nigel P. ;
Colombi, Marina ;
Lavallee, Mark E. ;
Malfait, Fransiska ;
Francomano, Clair A. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (01) :27-39
[7]   The Ehlers-Danlos Syndromes, Rare Types [J].
Brady, Angela F. ;
Demirdas, Serwet ;
Fournel-Gigleux, Sylvie ;
Ghali, Neeti ;
Giunta, Cecilia ;
Kapferer-Seebacher, Ines ;
Kosho, Tomoki ;
Mendoza-Londono, Roberto ;
Pope, Michael F. ;
Rohrbach, Marianne ;
Van Damme, Tim ;
Vandersteen, Anthony ;
Van Mourik, Caroline ;
Voermans, Nicol ;
Zschocke, Johannes ;
Malfait, Fransiska .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (01) :70-115
[8]   Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome [J].
Byers, Peter H. ;
Belmont, John ;
Black, James ;
De Backer, Julie ;
Frank, Michael ;
Jeunemaitre, Xavier ;
Johnson, Diana ;
Pepin, Melanie ;
Robert, Leema ;
Sanders, Lynn ;
Wheeldon, Nigel .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (01) :40-47
[9]   A Framework for the Classification of Joint Hypermobility and Related Conditions [J].
Castori, Marco ;
Tinkle, Brad ;
Levy, Howard ;
Grahame, Rodney ;
Malfait, Fransiska ;
Hakim, Alan .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2017, 175 (01) :148-157
[10]   A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing [J].
Colombi, Marina ;
Dordoni, Chiara ;
Cinquina, Valeria ;
Venturini, Marina ;
Ritelli, Marco .
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 61 (01) :17-20