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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...

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Dettagli Bibliografici
Pubblicato in:Mol Cytogenet
Autori principali: Mullegama, Sureni V, Elsea, Sarah H
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4243375/
https://ncbi.nlm.nih.gov/pubmed/25426169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0080-9
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