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Non-mosaic trisomy 16 in a third-trimester fetus.
Yancey MK, Hardin EL, Pacheco C, Kuslich CD, Donlon TA. Yancey MK, et al. Among authors: kuslich cd. Obstet Gynecol. 1996 May;87(5 Pt 2):856-60. Obstet Gynecol. 1996. PMID: 8677115
Prader-Willi syndrome is caused by disruption of the SNRPN gene.
Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA. Kuslich CD, et al. Am J Hum Genet. 1999 Jan;64(1):70-6. doi: 10.1086/302177. Am J Hum Genet. 1999. PMID: 9915945 Free PMC article.
Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta.
Pace JM, Kuslich CD, Willing MC, Byers PH. Pace JM, et al. Among authors: kuslich cd. J Med Genet. 2001 Jul;38(7):443-9. doi: 10.1136/jmg.38.7.443. J Med Genet. 2001. PMID: 11432962 Free PMC article.