Deletion of 11q12.3–11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

Boyle, 2014, Cornelia de Lange syndrome, Clin. Genet. Brandt, 2008, B56beta, a regulatory subunit of protein phosphatase 2A, interacts with CALEB/NGC and inhibits CALEB/NGC-mediated dendritic branching, FASEB J., 22, 2521, 10.1096/fj.07-096115 Chandrasekharappa, 1997, Positional cloning of the gene for multiple endocrine neoplasia-type 1, Science, 276, 404, 10.1126/science.276.5311.404 Deardorff, 2007, Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation, Am. J. Hum. Genet., 80, 485, 10.1086/511888 Deardorff, 2012, HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle, Nature, 489, 313, 10.1038/nature11316 Deardorff, 2012, RAD21 mutations cause a human cohesinopathy, Am. J. Hum. Genet., 90, 1014, 10.1016/j.ajhg.2012.04.019 Gauthier, 2011, Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia, Hum. Genet., 130, 563, 10.1007/s00439-011-0975-z Gil-Rodriguez, 2015, De novo heterozygous mutations in SMC3 cause a range of Cornelia De Lange syndrome-overlapping phenotypes, Hum. Mutat., 10.1002/humu.22761 Jackson, 1993, de Lange syndrome: a clinical review of 310 individuals, Am. J. Med. Genet., 47, 940, 10.1002/ajmg.1320470703 Kline, 2007, Natural history of aging in Cornelia de Lange syndrome, Am. J. Med. Genet. C, 145C, 248, 10.1002/ajmg.c.30137 Krantz, 2004, Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster nipped-B, Nat. Genet., 36, 631, 10.1038/ng1364 Li, 2011, Poland syndrome associated with ipsilateral lipoma and dextrocardia, Ann. Thorac. Surg., 92, 2250, 10.1016/j.athoracsur.2011.04.088 Loveday, 2015, Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth, Hum. Mol. Genet., 10.1093/hmg/ddv182 Mohrmann, 2011, A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1, Eur. J. Med. Genet., 54, e461, 10.1016/j.ejmg.2011.04.006 Shyu, 2013, H-rev107 regulates prostaglandin D2 synthase-mediated suppression of cellular invasion in testicular cancer cells, J. Biomed. Sci., 20, 30, 10.1186/1423-0127-20-30 Ushkaryov, 1992, Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin, Science, 257, 50, 10.1126/science.1621094 Vaccari, 2014, De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome, BMC Med. Genet., 15, 63, 10.1186/1471-2350-15-63 Zhang, 2015, C-terminus of sororin interacts with SA2 and regulates sister chromatid cohesion, Cell Cycle, 14, 820, 10.1080/15384101.2014.1000206