Article
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.
Familial cancer - 1 Jan 2003
Hendriks Y M C, Verhallen J T C M, van der Smagt J J, Kant S G, Hilhorst Y, Hoefsloot L, Hansson K B-M, van der Straaten P J C, Boutkan H, Breuning M H, Vasen H F A, Bröcker-Vriends A H J T
Abstract excerpt
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is characterised by macrocephaly, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and mental retardation. The syndrome follows an autosomal dominant pattern of inheritance. In 1997 reports on two BRRS patients with a deletion at 10q23.2-q24.1 were published. In the same year, the first two families with BRRS and a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.