A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

BACKGROUND: Mental retardation is a genetically heterogeneous disorder, as more than 90 genes for this disorder has been found on the X chromosome alone. In addition the majority of patients are non-syndromic in that they do not present with clinically recognisable features. This makes it difficult...

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Autori principali: Jensen, Lars R, Bartenschlager, Heinz, Rujirabanjerd, Sinitdhorn, Tzschach, Andreas, Nümann, Astrid, Janecke, Andreas R, Spörle, Ralf, Stricker, Sigmar, Raynaud, Martine, Nelson, John, Hackett, Anna, Fryns, Jean-Pierre, Chelly, Jamel, de Brouwer, Arjan PM, Hamel, Ben, Gecz, Jozef, Ropers, Hans-Hilger, Kuss, Andreas W
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2010
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2830949/
https://ncbi.nlm.nih.gov/pubmed/20181063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8417-3-2
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