The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias
Author:
Affiliation:
1. Department of Pediatrics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania
2. Department of Pediatrics; University of Pennsylvania School of Medicine; Philadelphia Pennsylvania
3. Arcadia University; Glenside Pennsylvania
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38474/fullpdf
Reference41 articles.
1. Chromosome 22q11.2 deletion presenting with immune-mediated cytopenias, macrothrombocytopenia and platelet dysfunction;Akar;Medical Principles and Practice,2007
2. Bernard-Soulier syndrome;Berndt;Haematologica,2011
3. Cerebral microble eds A new presenting feature of chromosome 22q11. 2 deletion syndrome;Bonati;Journal of the Neurological Sciences,2016
4. Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11.2 deletion;Bosse;Cancer Genetics,2014
5. A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population;Botto;Pediatrics,2003
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