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Items: 4

1.
Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly
Hao Deng, Sheng Deng, Hongbo Xu, Han-Xiang Deng, Yulan Chen, Lamei Yuan, Xiong Deng, Shengbo Yang, Liping Guan, Jianguo Zhang, Hong Yuan, Yi Guo
PLoS One. 2016; 11(5): e0155180. Published online 2016 May 25. doi: 10.1371/journal.pone.0155180
PMCID:
PMC4880340
AbstractArticlePDF–1.5M
2.
A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date
Celia L. Gregson, Peter Hollingworth, Martin Williams, Kirsten A. Petrie, Alex N. Bullock, Matthew A. Brown, Jon H. Tobias, James T. Triffitt
Bone. Author manuscript; available in PMC 2011 Aug 23.
Published in final edited form as: Bone. 2011 Mar 1; 48(3): 654–658. Published online 2010 Oct 29. doi: 10.1016/j.bone.2010.10.164
PMCID:
PMC3160462
AbstractArticlePDF–1.1M
3.
Distal symphalangism associated with camptodactyly.
S Ohdo, Y Yamauchi, K Hayakawa
J Med Genet. 1981 Dec; 18(6): 456–458. doi: 10.1136/jmg.18.6.456
PMCID:
PMC1048793
SummaryPage BrowsePDF–492K
4.
Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.
F Halal, F C Fraser
J Med Genet. 1979 Apr; 16(2): 149–150. doi: 10.1136/jmg.16.2.149
PMCID:
PMC1012741
SummaryPage BrowsePDF–447K

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