High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
about
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model.Macrocephaly associated with the DICER1 syndrome.Anaplastic sarcomas of the kidney are characterized by DICER1 mutations.DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma.pyAmpli: an amplicon-based variant filter pipeline for targeted resequencing data.DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry.Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child.DICER1 Syndrome: DICER1 Mutations in Rare Cancers.
P2860
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P2860
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
description
2015 nî lūn-bûn
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name
High-sensitivity sequencing re ...... icism causing DICER1 syndrome.
@en
High-sensitivity sequencing re ...... icism causing DICER1 syndrome.
@nl
type
label
High-sensitivity sequencing re ...... icism causing DICER1 syndrome.
@en
High-sensitivity sequencing re ...... icism causing DICER1 syndrome.
@nl
prefLabel
High-sensitivity sequencing re ...... icism causing DICER1 syndrome.
@en
High-sensitivity sequencing re ...... icism causing DICER1 syndrome.
@nl
P2093
P2860
P50
P1476
High-sensitivity sequencing re ...... icism causing DICER1 syndrome.
@en
P2093
Antonia H M Bouts
Aparna Ramasubramanian
Charlotte Engelenberg
Claudio Sandoval
David A Plager
Dorothée Bouron-Dal Soglio
Dunarel Badescu
Evan Weber
Janine Callahan
Jiannis Ragoussis
P2860
P356
10.1136/JMEDGENET-2015-103428
P407
P577
2015-10-16T00:00:00Z