Variability of expression in tuberous sclerosis

H. Northrup, James Wheless, T. K. Bertin, R. A. Lewis

Research output: Contribution to journalArticle

53 Citations (Scopus)

Abstract

We present three families in whom a diagnosis of tuberous sclerosis is difficult to secure and we review published reports about similar cases. Tuberous sclerosis has been reported to affect as many as 1 in 9400 subjects in the population. The manifestations of this disease vary not only between but also within families. Currently no reliable method of prenatal diagnosis is available. For these reasons, subjects known to be at 50% risk should be assessed scrupulously to clarify their status. These cases illustrate the difficulties in the clinical diagnosis of tuberous sclerosis and further reinforce the need for a molecular method of determining whether an at risk subject has the disease.

Original languageEnglish (US)
Pages (from-to)41-43
Number of pages3
JournalJournal of Medical Genetics
Volume30
Issue number1
StatePublished - Jan 1 1993
Externally publishedYes

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Tuberous Sclerosis
Prenatal Diagnosis
Population

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Northrup, H., Wheless, J., Bertin, T. K., & Lewis, R. A. (1993). Variability of expression in tuberous sclerosis. Journal of Medical Genetics, 30(1), 41-43.

Variability of expression in tuberous sclerosis. / Northrup, H.; Wheless, James; Bertin, T. K.; Lewis, R. A.

In: Journal of Medical Genetics, Vol. 30, No. 1, 01.01.1993, p. 41-43.

Research output: Contribution to journalArticle

Northrup, H, Wheless, J, Bertin, TK & Lewis, RA 1993, 'Variability of expression in tuberous sclerosis', Journal of Medical Genetics, vol. 30, no. 1, pp. 41-43.
Northrup H, Wheless J, Bertin TK, Lewis RA. Variability of expression in tuberous sclerosis. Journal of Medical Genetics. 1993 Jan 1;30(1):41-43.
Northrup, H. ; Wheless, James ; Bertin, T. K. ; Lewis, R. A. / Variability of expression in tuberous sclerosis. In: Journal of Medical Genetics. 1993 ; Vol. 30, No. 1. pp. 41-43.
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