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Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Among authors: hunter a. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370
The Hunter-McAlpine syndrome results from duplication 5q35-qter.
Hunter AG, Dupont B, McLaughlin M, Hinton L, Baker E, Adès L, Haan E, Schwartz CE. Hunter AG, et al. Clin Genet. 2005 Jan;67(1):53-60. doi: 10.1111/j.1399-0004.2005.00378.x. Clin Genet. 2005. PMID: 15617549
In 1977 Hunter et al. J Med Genet 1977: 14 (6): 430-437, reported a family with six affected members, connected over three generations through unaffected individuals. Subsequently, several other patients purported to have the condition were reported. The condition b …
In 1977 Hunter et al. J Med Genet 1977: 14 (6): 430-437, reported a family with six affected members, connected over three gen …
Elements of morphology: standard terminology for the ear.
Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L. Hunter A, et al. Am J Med Genet A. 2009 Jan;149A(1):40-60. doi: 10.1002/ajmg.a.32599. Am J Med Genet A. 2009. PMID: 19152421
2,168 results