Macrocephaly associated with the DICER1 syndrome

BACKGROUND: Germline mutations in DICER1 increase the risk of various tumors, including pleuropulmonary blastoma. Macrocephaly and symmetric overgrowth has been reported in some, but not all, patients with mosaic DICER1 RNase IIIb mutations; the prevalence of these features in individuals with const...

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Gepubliceerd in:Genet Med
Hoofdauteurs: Khan, Nicholas E., Bauer, Andrew J., Doros, Leslie, Schultz, Kris Ann P., Decastro, Rosamma M., Harney, Laura A., Kase, Ron G., Carr, Ann G., Harris, Anne K., Williams, Gretchen M., Dehner, Louis P., Messinger, Yoav H., Stewart, Douglas R.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2016
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5253131/
https://ncbi.nlm.nih.gov/pubmed/27441995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.83
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