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Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
Am J Med Genet A. 2011 Sep;155A(9):2105-11. doi: 10.1002/ajmg.a.34156. Epub 2011 Aug 10.
Am J Med Genet A. 2011.
PMID: 21834047
Review.
Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12.
Fickie MR, Stoler JM.
Fickie MR, et al.
Am J Med Genet A. 2011 Dec;155A(12):3122-4. doi: 10.1002/ajmg.a.34294. Epub 2011 Oct 14.
Am J Med Genet A. 2011.
PMID: 22002936
No abstract available.
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Health-care referrals from direct-to-consumer genetic testing.
Giovanni MA, Fickie MR, Lehmann LS, Green RC, Meckley LM, Veenstra D, Murray MF.
Giovanni MA, et al. Among authors: fickie mr.
Genet Test Mol Biomarkers. 2010 Dec;14(6):817-9. doi: 10.1089/gtmb.2010.0051. Epub 2010 Oct 28.
Genet Test Mol Biomarkers. 2010.
PMID: 20979566
Free PMC article.
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