Difference between revisions of "DICER1 syndrome"
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'''DICER1 syndrome''' is characterized by mutations in the DICER1 gene. | '''DICER1 syndrome''' is characterized by mutations in the DICER1 gene. | ||
Conditions associated with the syndrome include: | |||
*[[Pleuropulmonary blastoma]] (PPB).<ref name=pmid28960912>{{Cite journal | last1 = van Engelen | first1 = K. | last2 = Villani | first2 = A. | last3 = Wasserman | first3 = JD. | last4 = Aronoff | first4 = L. | last5 = Greer | first5 = MC. | last6 = Tijerin Bueno | first6 = M. | last7 = Gallinger | first7 = B. | last8 = Kim | first8 = RH. | last9 = Grant | first9 = R. | title = DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. | journal = Pediatr Blood Cancer | volume = 65 | issue = 1 | pages = | month = Jan | year = 2018 | doi = 10.1002/pbc.26720 | PMID = 28960912 }}</ref> | *[[Pleuropulmonary blastoma]] (PPB).<ref name=pmid28960912>{{Cite journal | last1 = van Engelen | first1 = K. | last2 = Villani | first2 = A. | last3 = Wasserman | first3 = JD. | last4 = Aronoff | first4 = L. | last5 = Greer | first5 = MC. | last6 = Tijerin Bueno | first6 = M. | last7 = Gallinger | first7 = B. | last8 = Kim | first8 = RH. | last9 = Grant | first9 = R. | title = DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. | journal = Pediatr Blood Cancer | volume = 65 | issue = 1 | pages = | month = Jan | year = 2018 | doi = 10.1002/pbc.26720 | PMID = 28960912 }}</ref> | ||
*[[Pineoblastoma]].<ref name=pmid28960912/> | *[[Pineoblastoma]].<ref name=pmid28960912/> | ||
Revision as of 20:25, 21 August 2018
DICER1 syndrome is characterized by mutations in the DICER1 gene.
Conditions associated with the syndrome include:
References
- ↑ 1.0 1.1 van Engelen, K.; Villani, A.; Wasserman, JD.; Aronoff, L.; Greer, MC.; Tijerin Bueno, M.; Gallinger, B.; Kim, RH. et al. (Jan 2018). "DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.". Pediatr Blood Cancer 65 (1). doi:10.1002/pbc.26720. PMID 28960912.