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An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA. McLean WH, et al. Among authors: irvine ad. Hum Mol Genet. 2003 Sep 15;12(18):2395-409. doi: 10.1093/hmg/ddg234. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915477
Inherited defects in keratins.
Irvine AD. Irvine AD. Clin Dermatol. 2005 Jan-Feb;23(1):6-14. doi: 10.1016/j.clindermatol.2004.09.014. Clin Dermatol. 2005. PMID: 15708284 Review.
332 results