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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253131/
https://www.ncbi.nlm.nih.gov/pubmed/27441995
http://dx.doi.org/10.1038/gim.2016.83

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