Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis
Open Access
- 4 March 1999
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 340 (9) , 703-707
- https://doi.org/10.1056/nejm199903043400905
Abstract
Mosaicism is the phenomenon in which a fraction of, rather than all, germ-line and somatic cells contain a mutation or chromosomal abnormality. It occurs in all genetic disorders in which spontaneous mutations occur and has important clinical consequences for the assessment of patients with localized expression of multisystem disorders, for genetic counseling, and for molecular diagnostic testing.1,2Keywords
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