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| Year | Number of Results |
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| 2003 | 1 |
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The genetic basis for skeletal diseases.
Nature. 2003 May 15;423(6937):343-8. doi: 10.1038/nature01659.
Nature. 2003.
PMID: 12748653
Review.
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S.
Nishimura G, et al.
J Med Genet. 2004 Jan;41(1):75-9. doi: 10.1136/jmg.2003.013722.
J Med Genet. 2004.
PMID: 14729840
Free PMC article.
No abstract available.
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A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ.
Toydemir RM, et al.
Am J Hum Genet. 2006 Nov;79(5):935-41. doi: 10.1086/508433. Epub 2006 Sep 26.
Am J Hum Genet. 2006.
PMID: 17033969
Free PMC article.
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