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Distal 22q11.2 microduplication encompassing the BCR gene.
Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM. Descartes M, et al. Among authors: mikhail fm. Am J Med Genet A. 2008 Dec 1;146A(23):3075-81. doi: 10.1002/ajmg.a.32572. Am J Med Genet A. 2008. PMID: 19006218
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Burnside RD, et al. Among authors: mikhail fm. Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27. Hum Genet. 2011. PMID: 21359847 Free PMC article.
72 results