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The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome
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...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3366707/ https://ncbi.nlm.nih.gov/pubmed/22670137 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000337496 |
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