High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.

de Kock, Leanne

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. [electronic resource] - Journal of medical genetics Jan 2016 - 43-52 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmedgenet-2015-103428 doi


Child
Child, Preschool
Computational Biology--methods
DEAD-box RNA Helicases--genetics
DNA Mutational Analysis
Female
Genetic Association Studies
High-Throughput Nucleotide Sequencing--methods
Humans
Loss of Heterozygosity
Male
Mosaicism
Mutation
Neoplasms, Multiple Primary--diagnosis
Phenotype
Ribonuclease III--genetics
Sensitivity and Specificity
Syndrome