Loffeld A, McLellan N J, Cole T, Payne S J, Fricker D, Moss C
Birmingham Children's Hospital, Birmingham B4 6NL, U.K.
Br J Dermatol. 2006 Jun;154(6):1194-8. doi: 10.1111/j.1365-2133.2006.07196.x.
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.
一名患有变形综合征的3岁男孩有一个新的种系PTEN基因p.Y68D突变，该突变遗传自患有考登综合征的母亲。此外，从他广泛分布的表皮痣刮除物中提取的DNA显示该突变存在杂合性缺失。据我们所知，此前尚未有过此类描述。
