Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

BACKGROUND: Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors. METHODS: We investigated a cohort o...

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Detalles Bibliográficos
Autores principales: Loviglio, Maria Nicla, Beck, Christine R., White, Janson J., Leleu, Marion, Harel, Tamar, Guex, Nicolas, Niknejad, Anne, Bi, Weimin, Chen, Edward S., Crespo, Isaac, Yan, Jiong, Charng, Wu-Lin, Gu, Shen, Fang, Ping, Coban-Akdemir, Zeynep, Shaw, Chad A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Rougemont, Jacques, Xenarios, Ioannis, Lupski, James R., Reymond, Alexandre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088687/
https://www.ncbi.nlm.nih.gov/pubmed/27799067
http://dx.doi.org/10.1186/s13073-016-0359-z

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