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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG, Markham A, Wong M, Widmer R, Ghaffar KA, Pemberton M, Hussein IR, Temtamy SA, Davies R, Read AP, Sloan P, Dixon MJ, Thakker NS. Toomes C, et al. Among authors: markham a. Nat Genet. 1999 Dec;23(4):421-4. doi: 10.1038/70525. Nat Genet. 1999. PMID: 10581027
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.
Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG. Jackson AP, et al. Among authors: markham af. Am J Hum Genet. 1998 Aug;63(2):541-6. doi: 10.1086/301966. Am J Hum Genet. 1998. PMID: 9683597 Free PMC article.
A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.
McHale DP, Jackson AP, Campbell, Levene MI, Corry P, Woods CG, Lench NJ, Mueller RF, Markham AF. McHale DP, et al. Among authors: markham af. Eur J Hum Genet. 2000 Apr;8(4):267-72. doi: 10.1038/sj.ejhg.5200445. Eur J Hum Genet. 2000. PMID: 10854109
607 results