| Literature DB >> 16704655 |
A Loffeld1, N J McLellan, T Cole, S J Payne, D Fricker, C Moss.
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.Entities:
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Year: 2006 PMID： 16704655 DOI： 10.1111/j.1365-2133.2006.07196.x
Source DB: PubMed Journal: Br J Dermatol ISSN： 0007-0963 Impact factor: 9.302