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. 1988 Feb;42(2):284–289.

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants.

V M Riccardi 1, R A Lewis 1
PMCID: PMC1715266  PMID: 3124613

Abstract

This paper reviews the concepts of penetrance and expressivity and examines their application to the specific disorder von Recklinghausen neurofibromatosis. The data suggest that assessments of penetrance among predecessors to probands yield results different from those of assessments of penetrance among descendants to probands. For descendants at risk, penetrance is very close to 100%. For predecessors at risk, extremely variable expressivity may confound estimates of penetrance; as a specific example, a family is described in which two brothers have bona fide von Recklinghausen neurofibromatosis and their mother manifests the neurofibromatosis mutation only as iris Lisch nodules.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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