TY - JOUR T1 - Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. JF - Journal of Medical Genetics JO - J Med Genet SP - 886 LP - 889 DO - 10.1136/jmg.35.11.886 VL - 35 IS - 11 AU - M Longy AU - V Coulon AU - B Duboué AU - A David AU - M Larrègue AU - C Eng AU - P Amati AU - J L Kraimps AU - A Bottani AU - D Lacombe AU - D Bonneau Y1 - 1998/11/01 UR - http://jmg.bmj.com/content/35/11/886.abstract N2 - We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q. ER -