Article
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.
Clinical genetics - 1 Aug 2008
Menko F H, Kneepkens C M F, de Leeuw N, Peeters E A J, Van Maldergem L, Kamsteeg E J, Davidson R, Rozendaal L, Lasham C A, Peeters-Scholte C M P, Jansweijer M C, Hilhorst-Hofstee Y, Gille J J P, Heins Y M, Nieuwint A W M, Sistermans E A
Abstract excerpt
Infantile juvenile polyposis is a rare disease with severe gastrointestinal symptoms and a grave clinical course. Recently, 10q23 microdeletions involving the PTEN and BMPR1A genes were found in four patients with infantile juvenile polyposis. It was hypothesized that a combined and synergistic effect of the deletion of both genes would explain the condition. Subsequently, however, a patient with a larger 10q23...
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