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Can I read Microdeletion syndromes on EtoBox?
Microdeletion syndromes by Gemma L Carvill; Heather C Mefford is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Microdeletion syndromes about?
The recent explosion in the implementation of genome-wide microarray technology to discover rare, pathogenic genomic rearrangements in a variety of diseases has led to the discovery of numerous microdeletion syndromes. It is now clear that these microdeletions are associated with extensive phenotypic heterogeneity and incomplete penetrance. A subset of recurrent microdeletions underpin diverse phenotypes, including intellectual disability, autism, epilepsy and neuropsychiatric disorders. Recent studies highlight a role for additional low frequency variants, or 'second hits' to account for this variability. The implementation of massively parallel sequencing and epigenetic models may provide a powerful prospective approach to the delineation of microdeletion syndrome phenotypes.
Who reads Microdeletion syndromes?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Gemma L Carvill; Heather C Mefford
- Publisher
- Elsevier BV
- Published
- 2013
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)