17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome
暂无分享,去创建一个
A. Coppola | F. Zara | P. Bernardo | S. Striano | M. Cirillo | M. Traverso | F. Madia | L. Santulli | Luigi del Gaudio | Carmela Caccavale
[1] Bradley P. Coe,et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant , 2015, European Journal of Human Genetics.
[2] Janet B W Williams,et al. Diagnostic and Statistical Manual of Mental Disorders , 2013 .
[3] B. D. de Vries,et al. Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome , 2013, American journal of medical genetics. Part A.
[4] L. Vissers,et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome , 2012, Nature Genetics.
[5] E. Mercuri,et al. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype , 2012, Nature Genetics.
[6] M. Fichera,et al. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. , 2012, Archives of neurology.
[7] J. Mosser,et al. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. , 2011, European journal of medical genetics.
[8] S. Aftimos,et al. Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome , 2009, Journal of Medical Genetics.
[9] L. Vissers,et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome , 2008, Journal of Medical Genetics.
[10] R. Pfundt,et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism , 2006, Nature Genetics.
[11] C. Rosenberg,et al. A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient , 2006, Cytogenetic and Genome Research.
[12] Carter D Wray. 17q21.31 microdeletion associated with infantile spasms. , 2013, European journal of medical genetics.