Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is not yet clear to what extent these and accompanying symptoms may vary. In addition, the frequency of Xq28 duplica...

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Päätekijät: Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-Michel, Echenne, Bernard, Tariverdian, Gholamali, O'Rourke, Declan, King, Mary D, Green, Andrew, van Kogelenberg, Margriet, Van Esch, Hilde, Gecz, Jozef, Hamel, Ben C J, van Bokhoven, Hans, de Brouwer, Arjan P M
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2009
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986218/
https://ncbi.nlm.nih.gov/pubmed/18985075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.208
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