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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: verloes 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
Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome.
Herens C, Jamar M, Alvarez-Gonzalez ML, Lesenfants S, Lombet J, Bonnivert J, Koulischer L, Verloes A. Herens C, et al. Among authors: verloes a. Am J Med Genet. 1997 Dec 12;73(2):127-31. doi: 10.1002/(sici)1096-8628(19971212)73:2<127::aid-ajmg5>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9409861
In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major mani …
In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrom …
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, Escudero RM, Hernandez R, Quero J. del Campo M, et al. Among authors: verloes a. Am J Med Genet. 1999 Aug 27;85(5):479-85. doi: 10.1002/(sici)1096-8628(19990827)85:5<479::aid-ajmg9>3.3.co;2-4. Am J Med Genet. 1999. PMID: 10405446 Review.
520 results