학술논문
High rate of mosaicism in tuberous sclerosis complex
Document Type
Academic Journal
Author
Source
American Journal of Human Genetics. June, 1999, Vol. 64 Issue 6, p1632, 6 p.
Subject
Language
ISSN
0002-9297
Abstract
Mosaicism occurred in six of 62 unrelated families with tuberous sclerosis complex. All 62 families had a known mutation in one of the tuberous sclerosis complex (TSC) genes, either TSC1 or TSC2. Somatic mosaicism was associated with a mild TSC phenotype. Gonadal mosaicism was detected in one family, with a possibility of somatic mosaicism as well.