Will the real Cowden syndrome please stand up: revised diagnostic criteria

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation1998 · 660 citations
2. 2PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome1999 · 613 citations
3. 3Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis2000 · 214 citations
4. 4Novel germline mutations in the <i>PTEN</i>tumour suppressor gene found in women with multiple cancers2000 · 58 citations
5. 5Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations1999 · 349 citations