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The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome

โœ Scribed by Zweier, M.; Rauch, A.


Book ID
111871646
Publisher
S. Karger AG
Year
2011
Tongue
English
Weight
392 KB
Volume
2
Category
Article
ISSN
1661-8769

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Mutations in MEF2C from the 5q14.3q15 mi
โœ Markus Zweier; Anne Gregor; Christiane Zweier; Hartmut Engels; Heinrich Sticht; ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 612 KB

The etiology of mental retardation remains elusive in the majority of cases. Microdeletions within chromosomal bands 5q14.3q15 were recently identified as a recurrent cause of severe mental retardation, epilepsy, muscular hypotonia, and variable minor anomalies. By molecular karyotyping we identifie