Article
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.
Human mutation - 1 Dec 2007
Moncla Anne, Missirian Chantal, Cacciagli Pierre, Balzamo Eve, Legeai-Mallet Laurence, Jouve Jean-Luc, Chabrol Brigitte, Le Merrer Martine, Plessis Ghislaine, Villard Laurent, Philip Nicole
Abstract excerpt
Overexpression of the C-type natriuretic peptide, encoded by the NPPC gene in 2q37.1, was recently reported in a patient presenting an overgrowth phenotype and a balanced t(2;7)(q37.1;q21.3) translocation. We present clinical, cytogenetic, and molecular data from two additional patients carrying...
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