MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes

Individuals with autism spectrum disorders (ASD) who have an identifiable single-gene neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS, FMR1), Smith–Magenis syndrome (SMS, RAI1), or 2q23.1 deletion syndrome (del 2q23.1, MBD5) share phenotypic features, including a high prevalence o...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Mullegama, Sureni V, Pugliesi, Loren, Burns, Brooke, Shah, Zalak, Tahir, Raiha, Gu, Yanghong, Nelson, David L, Elsea, Sarah H
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795052/
https://ncbi.nlm.nih.gov/pubmed/25271084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.200
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