Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family.
作者信息
Tiberio G, Diglio M C, Graziani M, Testa F, Giannotti A
出版信息
J Med Genet. 2000 Jul;37(7):548-51. doi: 10.1136/jmg.37.7.548.
Abstract
摘要
相似文献
1
Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family.利本贝格综合征：短指伴关节发育异常（MIM 186550）：另一家系
J Med Genet. 2000 Jul;37(7):548-51. doi: 10.1136/jmg.37.7.548.
2
Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.利本伯格综合征是由 PITX1 基因上游的缺失引起的，导致上肢转化为下肢特征。
Gene. 2013 Jul 15;524(1):65-71. doi: 10.1016/j.gene.2013.03.120. Epub 2013 Apr 12.
3
The Liebenberg syndrome: in depth analysis of the original family.利本伯格综合征：对原发病例家庭的深入分析
J Hand Surg Eur Vol. 2014 Nov;39(9):919-25. doi: 10.1177/1753193413502162. Epub 2013 Aug 12.
4
Brachydactyly type C.C型短指（趾）症
J Hand Surg Am. 2001 Jan;26(1):31-9. doi: 10.1053/jhsu.2001.21534.
5
Cooks syndrome: a case report and brief review.库克综合征：一例病例报告及简要综述。
Pediatr Dermatol. 2013 Jul-Aug;30(4):e52-3. doi: 10.1111/j.1525-1470.2011.01668.x. Epub 2012 Feb 13.
6
Leri-Weill syndrome (dyschondrosteosis): a family study.勒里-韦伊综合征（骨干端发育异常）：一项家族研究。
J Hand Surg Br. 1988 Feb;13(1):16-8. doi: 10.1016/0266-7681_88_90043-5.
7
Brachydactyly type A1 with short humerus and associated skeletal features.短肱骨并伴有其他骨骼特征的 A1 型短指（趾）症。
Am J Med Genet A. 2010 Dec;152A(12):3016-21. doi: 10.1002/ajmg.a.33761.
8
Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?一名患有t(15;20)(q25.2;p12.2)母源重复-缺失的儿童出现短指畸形。一条或两条染色体上的候选区域？
Clin Genet. 1997 May;51(5):357-60. doi: 10.1111/j.1399-0004.1997.tb02489.x.
9
Ectrodactyly. A case report.缺指（趾）畸形。病例报告。
Minerva Pediatr. 2000 Jul-Aug;52(7-8):381-3.
10
Embryology of familial (non-syndromic) brachydactyly of the hand.家族性（非综合征型）手部短指畸形的胚胎学
J Hand Surg Eur Vol. 2014 Nov;39(9):926-33. doi: 10.1177/1753193413514363. Epub 2013 Dec 3.
Zotero 插件