National Cancer Institute®
Last Modified: May 1, 2002
UI - 11989480
AU - Del Pozo J; Martinez W; Calvo R; Almagro M; Fonseca E
TI - Unilateral angiofibromas. An oligosymptomatic and segmentary form of tuberous sclerosis.
SO - Eur J Dermatol 2002 May-Jun;12(3):262
AD - Department of Dermatology, Hospital Juan-Canalejo, Xubias de Arriba 84, 1500 La Coruna, Spain.
UI - 11980066
AU - Smith M
TI - Mapping of the tuberous sclerosis genes.
SO - Int J Neurol 1991-1992;25-26():81-8
AD - Dept. of Pediatrics, University of California, Irvine, USA.
Tuberous sclerosis is a dominantly inherited genetic disorder, with a high frequency of new mutations, which has been shown through genetic linkage studies to be genetically heterogeneous. In this paper we summarize recent progress in linkage studies which indicate that there is one TSC gene on chromosome 9q34 which accounts for approximately 40% of cases and another on chromosome 16p13.3 which accounts for approximately 50% of cases. We discuss the map position of these TSC genes on chromosome 9q34 and 16p13.3. We discuss physical mapping data in these two regions. We postulate on the pathogenesis of TSC lesions and on the cause of the high frequency of new mutations. We present a strategy to progress from the mapping of the TSC genes to isolation of these genes.
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