Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome

被引:0
作者
Rowena Ng
Julia O’Connor
Deirdre Summa
Antonie D. Kline
机构
[1] Kennedy Krieger Institute,Department of Neuropsychology
[2] Johns Hopkins University School of Medicine,Department of Psychiatry and Behavioral Sciences
[3] Cornelia de Lange Syndrome Foundation,Harvey Institute for Human Genetics, Department of Pediatrics
[4] Greater Baltimore Medical Center,undefined
来源
Orphanet Journal of Rare Diseases | / 19卷
关键词
Genetics/genetic disorders; NIPBL; SMC1A; Cornelia de Lange syndrome; Development; Behavior functioning; Interventions;
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[1]  
Ajmone PF(2022)Neuropsychiatric functioning in CdLS: A detailed phenotype and genotype correlation Autism Dev Disord 52 4763-4773
[2]  
Allegri B(1997)De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes J Med Genet 34 645-650
[3]  
Cereda A(2014)Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism J Med Genet 51 659-668
[4]  
Michelini G(2007)The behavioural phenotype of Cornelia de Lange syndrome: a study of 56 individuals J Intellect Disabil Res 51 671-681
[5]  
Dall’Ara F(2022)Further characterization of J Child Neurol 37 390-396
[6]  
Mariani M(2012) loss of function epilepsy distinct from Cornelia de Lange syndrome Nature 489 313-317
[7]  
Rigamonti C(2007)HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle Am J Hum Genet 80 485-494
[8]  
Selicorni A(2012)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 90 1014-1027
[9]  
Vizziello P(2015)RAD21 mutations cause a human cohesinopathy Hum Mutat 36 454-462
[10]  
Costantino MAJ(2017)De Novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes Am J Med Genet A 173 2108-2125