Literature DB >> 6792920

Neurofibromatosis in monozygotic twins: a case report of spontaneous mutation.

A J Vaughn, D Bachman, A Sommer.   

Abstract

We report female monozygotic twins with neurofibromatosis. The family history is unremarkable, and careful examination of other family members did not show evidence of the condition. It is concluded that the occurrence in this family is due to a spontaneous mutation arising in one of the parental gametes. This article examines the similarity and difference in manifestations of the disorder in this pair of monozygotic twins.

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Year:  1981        PMID: 6792920     DOI: 10.1002/ajmg.1320080205

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  A twin study on age-related macular degeneration.

Authors:  S M Meyers
Journal:  Trans Am Ophthalmol Soc       Date:  1994

2.  An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

Authors:  D F Easton; M A Ponder; S M Huson; B A Ponder
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

3.  Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Authors:  Audrey Sabbagh; Eric Pasmant; Ingrid Laurendeau; Béatrice Parfait; Sébastien Barbarot; Bernard Guillot; Patrick Combemale; Salah Ferkal; Michel Vidaud; Patrick Aubourg; Dominique Vidaud; Pierre Wolkenstein
Journal:  Hum Mol Genet       Date:  2009-05-05       Impact factor: 6.150

  3 in total

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