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Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression
2q23.1 deletion syndrome is characterized by intellectual disability, speech impairment, seizures, disturbed sleep pattern, behavioral problems, and hypotonia. Core features of this syndrome are due to haploinsufficiency of MBD5. Deletions that include coding and noncoding exons show reduced MBD5 mR...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243375/ https://www.ncbi.nlm.nih.gov/pubmed/25426169 http://dx.doi.org/10.1186/s13039-014-0080-9 |