Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 16704655.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Loss of Heterozygosity
- Nevus, Pigmented
- PTEN Phosphohydrolase
- Proteus Syndrome
- Skin Neoplasms