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Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.
J Clin Endocrinol Metab. 2010 Jun;95(6):3028-38. doi: 10.1210/jc.2009-1451. Epub 2010 Apr 28.
J Clin Endocrinol Metab. 2010.
PMID: 20427508
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y.
Narumi Y, et al. Among authors: coeslier dieux a.
J Hum Genet. 2008;53(9):834-841. doi: 10.1007/s10038-008-0320-0. Epub 2008 Jul 24.
J Hum Genet. 2008.
PMID: 18651097
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