Revertant mosaicism in human genetic disorders

M F Jonkman

doi:10.1002/(sici)1096-8628(19990806)85:4<361::aid-ajmg11>3.0.co;2-e

Revertant mosaicism in human genetic disorders

Am J Med Genet. 1999 Aug 6;85(4):361-4. doi: 10.1002/(sici)1096-8628(19990806)85:4<361::aid-ajmg11>3.0.co;2-e.

Author

M F Jonkman¹

Affiliation

¹ Department of Dermatology, University Hospital Groningen, Groningen, The Netherlands. [email protected]

PMID: 10398261
DOI: 10.1002/(sici)1096-8628(19990806)85:4<361::aid-ajmg11>3.0.co;2-e

Abstract

Somatic reversion of inherited mutations is known for many years in plant breeding, however it was recognized only recently in humans. The concept of revertant mosaicism is important in medical genetics.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Adult
Female
Genetic Diseases, Inborn / genetics*
Humans
Mosaicism*
Mutation*
Skin / pathology