[HTML][HTML] Phenotypic distinctions between mosaic forms of tuberous sclerosis complex
AM Treichel, L Hamieh, NR Nathan, ME Tyburczy… - Genetics in …, 2019 - Elsevier
Purpose To determine if mosaic tuberous sclerosis complex (TSC) can be stratified into
subtypes that correspond with prognosis and extent of disease. Methods Next-generation
sequencing of skin tumor and other samples was used to identify patients with mosaic
pathogenic variants in TSC1 or TSC2. Extent of disease, onset age, and family history of
TSC were determined through retrospective analysis of patient records. Results The median
number of disease findings and age at penetrance differed between mosaic patients with …
subtypes that correspond with prognosis and extent of disease. Methods Next-generation
sequencing of skin tumor and other samples was used to identify patients with mosaic
pathogenic variants in TSC1 or TSC2. Extent of disease, onset age, and family history of
TSC were determined through retrospective analysis of patient records. Results The median
number of disease findings and age at penetrance differed between mosaic patients with …
