Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation
- 14 March 2006
- journal article
- case report
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 154 (6) , 1194-1198
- https://doi.org/10.1111/j.1365-2133.2006.07196.x
Abstract
A 3-year-old boy with Proteus syndrome has a novel germline p.Y68D mutation of the PTEN gene inherited from his mother who has Cowden syndrome. In addition, DNA extracted from curettings of his widespread epidermal naevus shows loss of heterozygosity for this mutation. To our knowledge, this has not been described before.Keywords
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