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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: darling j. 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
Laryngo-onycho-cutaneous syndrome.
Kadyan A, Aralikatti A, Shah S, Jewell R, Paul L, Darling J, Wood M, Gooi J, Morrell AJ, Newton Bishop JA, Marr JE. Kadyan A, et al. Among authors: darling j. Ophthalmology. 2010 May;117(5):1056-1056.e2. doi: 10.1016/j.ophtha.2009.11.019. Ophthalmology. 2010. PMID: 20438980 No abstract available.
349 results