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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K. Kitamura K, et al. Among authors: kato fukui y, kato m. Nat Genet. 2002 Nov;32(3):359-69. doi: 10.1038/ng1009. Epub 2002 Oct 15. Nat Genet. 2002. PMID: 12379852
Costello syndrome showing moyamoya-like vasculopathy.
Shiihara T, Kato M, Mitsuhashi Y, Hayasaka K. Shiihara T, et al. Among authors: kato m. Pediatr Neurol. 2005 May;32(5):361-3. doi: 10.1016/j.pediatrneurol.2004.12.010. Pediatr Neurol. 2005. PMID: 15866441
Megalencephaly and polymicrogyria with polydactyly syndrome.
Tohyama J, Akasaka N, Saito N, Yoshimura J, Nishiyama K, Kato M. Tohyama J, et al. Among authors: kato m. Pediatr Neurol. 2007 Aug;37(2):148-51. doi: 10.1016/j.pediatrneurol.2007.04.008. Pediatr Neurol. 2007. PMID: 17675034
8,395 results