[1] Kline AD, Moss JF, Selicorni A, et al. Diagnosis and management of Cornelia de Lange syndrome: First international consensus statement[J]. Nat Rev Genet, 2018,19(10): 649-666.
[2] Selicorni A, Mariani M, Lettieri A, et al. Cornelia de Lange Syndrome: From a disease to a broader spectrum[J]. Genes (Basel), 2021,12(7):1075.
[3] 马健,张琼琼,张开慧,等. HDAC8基因变异引起新生儿Cornelia de Lange综合征5型一例[J].中华医学遗传学杂志, 2019,36(7): 720-723.
Ma J, Zhang QQ, Zhang KH, et al. Clinical and genetic analysis of a neonate with Cornelia de Lange syndrome 5 caused by HDAC8 gene mutation[J]. Chin J Med Genet, 2019,36(7): 720-723. (in Chinese)
[4] 董燕, 史晓依, 徐瑞娟. HDAC8基因变异所致Cornelia de Lange综合征1例报告[J]. 临床儿科杂志, 2021,39(1): 51-54.
Dong Y, Shi XY, Xu RJ. Cornelia de Lange syndrome caused by HDAC8 gene mutation: A case report[J]. Journal of Clinical Pediatrics, 2021,39(1): 51-54.(in Chinese)
[5] Gao X, Huang Z, Fan Y, et al. A functional mutation in HDAC8 gene as novel diagnostic marker for cornelia de lange syndrome[J]. Cell Physiol Biochem, 2018,47(6): 2388-2395.
[6] Feng L, Zhou D, Zhang Z, et al. Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome[J]. J Hum Genet, 2014,59(9): 536-539.
[7] Li Q, Chang G, Yin L, et al. Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome[J]. Sci Rep, 2020,10(1): 21224.
[8] Liu C, Li X, Cui J, et al. Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review[J]. Mol Genet Genomic Med, 2020,8(10): e1471.
[9] 赵磊,张庆华,周秉博,等.Cornelia de Lange综合征患儿3例的基因型及表型分析[J].中华医学遗传学杂志, 2023,40(1):7-11.
Zhao L, Zhang QH, Zhou BB, et al. Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome[J]. Chin J Med Genet, 2023,40(1): 7-11.(in Chinese)
[10] Yu QX, Jing XY, Lin XM, et al. Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation[J]. Eur J Obstet Gynecol Reprod Biol, 2023,284: 16-19.
[11] 张孝玲, 黎帆, 吴玫瑰, 等. 新生儿德朗热综合征6例临床特点及基因变异分析[J]. 中华生物医学工程杂志, 2024,30(3): 188-194.
Zhang XL,Li F,Wu MG, et al. Clinical features and gene mutation analysis of 6 newborns with Cornelia de Lange syndrome[J]. Chinese Journal of Biomedical Engineering, 2024,30(3): 188-194.(in Chinese)
[12] Piche J, Van Vliet PP, Puceat M, et al. The expanding phenotypes of cohesinopathies: One ring to rule them all![J]. Cell Cycle, 2019,18(21): 2828-2848.
[13] Shangguan H, Chen R. Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review[J]. Front Pediatr, 2022,10: 940294.
[14] Cucco F, Sarogni P, Rossato S, et al. Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome[J]. Am J Med Genet A, 2020,182(7): 1690-1696.
[15] Osko JD, Porter NJ, Decroos C, et al. Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange syndrome spectrum disorders[J]. J Struct Biol, 2021,213(1): 107681.
[16] Kaur M, Blair J, Devkota B, et al. Genomic analyses in Cornelia de Lange syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms[J]. Am J Med Genet A, 2023,191(8): 2113-2131.
[17] Chhajed M, Lallar M, Gunasekaran PK, et al. A classic Cornelia de Lange syndrome type 5 (CdLS5) with a De novo missense variation of p.Gly210Arg in the HDAC8 gene with a novel phenotype of generalized dystonia[J]. Cureus, 2024,16(5): e60838.
[18] Latorre-Pellicer A, Ascaso A, Trujillano L, et al. Evaluating face2 Gene as a tool to identify cornelia de Lange syndrome by facial phenotypes[J]. Int J Mol Sci, 2020,21(3):1042.
[19] Sarogni P, Pallotta MM, Musio A. Cornelia de Lange syndrome: From molecular diagnosis to therapeutic approach[J]. J Med Genet, 2020,57(5): 289-295.
[20] Boyle MI, Jespersgaard C, Brondum-Nielsen K, et al. Cornelia de Lange syndrome[J]. Clin Genet, 2015,88(1): 1-12.