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Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. McInerney-Leo AM, et al. Among authors: kielty c. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11. J Med Genet. 2016. PMID: 27068007
Elastic fibres in health and disease.
Baldwin AK, Simpson A, Steer R, Cain SA, Kielty CM. Baldwin AK, et al. Expert Rev Mol Med. 2013 Aug 20;15:e8. doi: 10.1017/erm.2013.9. Expert Rev Mol Med. 2013. PMID: 23962539 Review.
ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.
Mularczyk EJ, Singh M, Godwin ARF, Galli F, Humphreys N, Adamson AD, Mironov A, Cain SA, Sengle G, Boot-Handford RP, Cossu G, Kielty CM, Baldock C. Mularczyk EJ, et al. Among authors: kielty cm. Hum Mol Genet. 2018 Nov 1;27(21):3675-3687. doi: 10.1093/hmg/ddy276. Hum Mol Genet. 2018. PMID: 30060141 Free PMC article.
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M. Robinson PN, et al. Among authors: kielty cm. J Med Genet. 2006 Oct;43(10):769-87. doi: 10.1136/jmg.2005.039669. Epub 2006 Mar 29. J Med Genet. 2006. PMID: 16571647 Free PMC article. Review.
169 results