Publication: The MEF2C-related and 5q14.3q15 microdeletion syndrome
The MEF2C-related and 5q14.3q15 microdeletion syndrome
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Zweier, M., & Rauch, A. (2012). The MEF2C-related and 5q14.3q15 microdeletion syndrome. Molecular Syndromology, 2(3–5), 164–170. https://doi.org/10.1159/000337496
Abstract
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Abstract
Disorders related to the autosomal transcription factor MEF2C located in 5q14.3 were first described in 2009 and have since evolved to one of the more common microdeletion syndromes. Mutational screening in a larger cohort revealed heterozygous de novo mutations of MEF2C in about 1% of patients with moderate to severe intellectual disability, and the phenotype is similar in patients with intragenic deletions and multigenic microdeletions. Clinically, MEF2C-related disorders are characterized by severe intellectual disability with abse
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- Rauch, A
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Zweier, M., & Rauch, A. (2012). The MEF2C-related and 5q14.3q15 microdeletion syndrome. Molecular Syndromology, 2(3–5), 164–170. https://doi.org/10.1159/000337496
