[1] Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome[J]. Eur J Hum Genet, 2010,18(1):8-14.
[2] Brioude F, Kalish JM, Mussa A, et al. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement[J]. Nat Rev Endocrinolo,2018,14(4):229-249.
[3] Beckwith JB, Perrin EV. In situ neuroblastomas: A contribution to the natural history of neural crest tumors[J]. Am J Pathol, 1963, 43(6):1089-1104.
[4] Wiedemann HR. Familal malformation complex with umbilical hernia and macroglossia: A “new syndrome”?[J]. Genet Hum, 1964, 13:223-232.
[5] Shuman C, Weksberg R . Beckwith-Wiedemann Syndrome[J]. Bre E Genet, 2013, 18(1):317-321.
[6] Mussa A, Molinatto C, Cerrato F, et al. Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome[J]. Eur J Pediatr, 2017, 140(1):2016-4311.
[7] 谢新宝,许丹, 刘仁超,等. Beckwith-Wiedemann综合征1例并文献复习[J]. 中国循证儿科杂志, 2013,8(1):56-60.
[8] Weaver JR,Susiarjo M, Bartolomei MS, et al. Imprinting and epigenetic changes in the early embryo[J]. Mamm Genome, 2009, 20(9-10):532-543.
[9] Priolo M, Sparago A, Corrado M, et al. MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment[J]. Eur J Pediatr, 2008, 16(5):565-571.
[10] Eggermann T, Algar E, Lapunzina P, et al. Clinical utility gene card for: Beckwith-Wiedemann Syndrome[J]. European Journal of Human Genetics, 2014, 22(3).
[11] Alders M, Maas SM,Kadouch DJM, et al. Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood[J]. Eur J Med Genetics, 2014, 57(6):293-297.
[12] Duffy KA, Cielo CM, Cohen JL, et al. Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management[J]. Am J Med Genet C, 2019,181(4):693-708.
[13] Cox GF, Burger J, Lip V, et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects[J].Am J Hum Genet, 2002,71(1):162-164.
[14] 朱艺芳, 汪勇芬, 陈永存,等. 新生儿Beckwith-Wiedemann综合征1例报道[J]. 中国医药指南, 2019,17(28):175-176.
[15] 李淑萍. 产后确诊Beckwith-Wiedemann综合征3例并文献复习[J]. 现代妇产科进展, 2019,28(10):799-800.
[16] 李晓莺, 律玉强, 高敏,等. 两例Beckwith-Wiedemann综合征的遗传学分析[J]. 中华医学遗传学杂志, 2017,34(6):831-834.
[17] Mussa A, Russo S, Larizza L, et al. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine[J]. Clin Genet, 2016, 89(4):403-415.
[18] Maas SM,Vansenne F, Kadouch DJM, et al. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups[J]. Am J Med Genet A, 2016,170(9):2248-2260.
[19] Kalish JM, Boodhansingh KE, Bhatti TR, et al. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome[J]. J Medical Genet, 2016, 53(1):53-61.
[20] Kadouch DJM, Maas SM, Dubois L, et al. Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: A 20-year experience and review of the literature[J]. Int J Oral Max Surg, 2012, 41(3):300-308.
[21] Mussa A, Molinatto C, Baldassarre G, et al. Cancer risk in Beckwith-Wiedemann syndrome:A systematic review and meta-analysis outlining a novel (Epi) genotype specific histotype targeted screening protocol[J]. J Pediatr, 2016, 176:142-149.
[22] Duffy KA,Deardorff MA, Kalish JM, et al. The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome[J]. Am J Med Genet A, 2017, 173(3):581-584.
[23] Kalish JM, Conlin LK, Bhatti TR, et al. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy[J]. Am J Med Genet A, 2013, 161(8):1929-1939.
[24] Carli D, Pellegrin MD, Franceschi L, et al. Evolution over time of leg length discrepancy in patients with syndromic and isolated lateralized overgrowth[J]. J Pediatr-US, 2021,234:123-127.