Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients, American Journal of Medical Genetics, vol.317, issue.3, pp.31-565, 1988. ,
DOI : 10.1016/0002-9394(86)90550-7
A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation, J Pediatr, pp.99570-573, 1981. ,
Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency, The Journal of Pediatrics, vol.99, issue.4, pp.565-574, 1981. ,
DOI : 10.1016/S0022-3476(81)80255-7
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome, Nature Genetics, vol.75, issue.9, pp.790-793, 2010. ,
DOI : 10.1038/ng.646
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum, European Journal of Human Genetics, vol.20, issue.4, pp.381-389, 2012. ,
DOI : 10.1136/jmg.2010.077586
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome, The American Journal of Human Genetics, vol.90, issue.1, pp.119-143, 2012. ,
DOI : 10.1016/j.ajhg.2011.11.021
(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2), Clinical Genetics, vol.14, issue.2, pp.252-258, 2015. ,
DOI : 10.1159/000207480
Unmasking Kabuki syndrome, Clinical Genetics, vol.131, issue.12, pp.201-211, 2013. ,
DOI : 10.1016/j.cell.2007.10.039
Kabuki make-up syndrome: A review, American Journal of Medical Genetics, vol.71, issue.1, pp.57-65, 2003. ,
DOI : 10.1002/ajmg.c.10020
Developmental outcome in Kabuki syndrome, American Journal of Medical Genetics Part A, vol.11, issue.1, pp.263-264, 2005. ,
DOI : 10.1097/00019605-200204000-00004
Speech and language in a genotyped cohort of individuals with Kabuki syndrome, American Journal of Medical Genetics Part A, vol.33, issue.7, pp.1483-1492, 2015. ,
DOI : 10.1016/j.braindev.2010.04.001
Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: A preliminary study, American Journal of Medical Genetics Part A, vol.79, issue.3 ,
DOI : 10.1002/(SICI)1096-8628(19980901)79:2<112::AID-AJMG7>3.0.CO;2-S
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2, Hum Mutat, vol.2016, issue.37, pp.847-64 ,
Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype, Journal of Child Psychology and Psychiatry, vol.42, issue.6, pp.576-608, 2008. ,
DOI : 10.1044/1092-4388(2005/007)
Sex Differences in Cognitive Functioning in Velocardiofacial Syndrome (VCFS), Developmental Neuropsychology, vol.6, issue.3, pp.849-869, 2005. ,
DOI : 10.1037//0012-1649.28.1.126
Long-term neurocognitive outcome and auditory event-related potentials after complex febrile seizures in children, Epilepsy & Behavior, vol.47, pp.47-55, 2015. ,
DOI : 10.1016/j.yebeh.2015.04.067
Kabuki syndrome: new ocular findings but no ,