Article
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
European journal of human genetics : EJHG - 1 Apr 1999
Nelen M R, Kremer H, Konings I B, Schoute F, van Essen A J, Koch R, Woods C G, Fryns J P, Hamel B, Hoefsloot L H, Peeters E A, Padberg G W
Abstract excerpt
Cowden disease (CD) is characterised by multiple hamartomas in a variety of tissues. The pathological hallmark is the presence of a number of trichilemmomas. Several neurological symptoms are also part of CD with megalencephaly and Lhermitte-Duclos disease (LDD) as the most important features. Early recognition of CD patients is important because of the increased risk of developing malignancies. Breast cancer is...
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