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Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb interstitial genomic deletion within chromosome 17p11.2. To investigate the molecular bases of the SMS phenotype...

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Publicat a:Genome Res
Autors principals: Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., Potocki, Lorraine, Shaffer, Lisa G., Devriendt, Koen, Nowaczyk, Małgorzata J.M., Inoue, Ken, Lupski, James R.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2002
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC186594/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11997338/
https://ncbi.nlm.nih.govhttps://doi.org/10.1101/gr.73702
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