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Radiological evolution in IMAGe association: a case report.
Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G, Hasegawa T. Amano N, et al. Among authors: nishimura g. Am J Med Genet A. 2008 Aug 15;146A(16):2130-3. doi: 10.1002/ajmg.a.32425. Am J Med Genet A. 2008. PMID: 18627061
Cover Image, Volume 176A, Number 1, January 2018.
Ikenoue S, Miyakoshi K, Ishii T, Sato Y, Otani T, Akiba Y, Kasuga Y, Ochiai D, Matsumoto T, Ichihashi Y, Matsuzaki Y, Tachikawa K, Michigami T, Nishimura G, Ikeda K, Hasegawa T, Tanaka M. Ikenoue S, et al. Among authors: nishimura g. Am J Med Genet A. 2018 Jan;176(1):i. doi: 10.1002/ajmg.a.38585. Am J Med Genet A. 2018. PMID: 29232060
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A. Nishimura G, et al. Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414. Am J Med Genet A. 2010. PMID: 20503319
721 results