A Mild Form of Bushy Syndrome in a Neonate: A Rare Case Report
Author:
Publisher
Jaypee Brothers Medical Publishing
Subject
General Medicine
Link
https://www.codsjod.com/doi/pdf/10.5005/jp-journals-10063-0081
Reference15 articles.
1. 1. DeScipio C, Kaur M, Yaeger D, et al. Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A 2005;137A(3):276–282. DOI: 10.1002/ajmg.a.30857
2. 2. Cheung K, Upton J. Cornelia de Lange syndrome. J Hand Surg Am 2015;40(12):2501–2503. DOI: 10.1016/j.jhsa.2015.07.023
3. 3. Peter D, Turnpenny, Sian Ellard Emery's Elements of Medical Genetics, Fifteenth. Amsterdam, Netherlands: Elsevier Limited; 2017.
4. 4. Kline AD, Moss JF, Selicorni A, et al. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet 2018;19(10):649–666. DOI: 10.1038/s41576-018-0031-0
5. 5. Sarogni P, Pallotta MM, Musio A. Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. J Med Genet 2020;57(5):289–295. DOI: 10.1136/jmedgenet-2019-106277
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