期刊
BRITISH JOURNAL OF DERMATOLOGY
卷 154, 期 6, 页码 1194-1198出版社
WILEY
DOI: 10.1111/j.1365-2133.2006.07196.x
关键词
loss of heterozygosity; Proteus syndrome; PTEN
类别
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.
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