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Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
Fukuda S, Tomatsu S, Masuno M, Ogawa T, Yamagishi A, Rezvi GM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Imaizumi K, Kuroki Y, Okabe T, Orii T. Fukuda S, et al. Among authors: imaizumi k. Hum Mutat. 1996;7(2):123-34. doi: 10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D. Hum Mutat. 1996. PMID: 8829629
Currarino triad with a terminal deletion 7q35-->qter.
Masuno M, Imaizumi K, Aida N, Tanaka Y, Sekido K, Ohhama Y, Nishi T, Kuroki Y. Masuno M, et al. Among authors: imaizumi k. J Med Genet. 1996 Oct;33(10):877-8. doi: 10.1136/jmg.33.10.877. J Med Genet. 1996. PMID: 8933345 Free PMC article.
971 results