Referenced in: none

Automatically associated channels: TRP , TRPM , TRPM1

Title: Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.

Authors: Malte Spielmann, Gabriele Reichelt, Christoph Hertzberg, Marc Trimborn, Stefan Mundlos, Denise Horn, Eva Klopocki

Journal, date & volume: Eur J Med Genet, 2011 Jul-Aug , 54, e441-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21596161

Abstract