Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Reference22 articles.
1. Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered. 1973;23:568–85. https://doi.org/10.1159/000152624.
2. Favier R, Akshoomoff N, Mattson S, Grossfeld P. Jacobsen syndrome: advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet. 2015;169(3):239–50. https://doi.org/10.1002/ajmg.c.31448.
3. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A. 2004;129A(1):51–61. https://doi.org/10.1002/ajmg.a.30090.
4. Penny LA, Dell’Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet. 1995;56(3):676–83.
5. Tootleman E, Malamut B, Akshoomoff N, Mattson SN, Hoffman HM, Jones MC, et al. Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor. Cold Spring Harb Mol Case Stud. 2019;5(3):1–9. https://doi.org/10.1101/mcs.a004010.
Cited by
5 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献