Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Intellectual disability (ID) has an estimated prevalence of 2–3%. Due to its extreme heterogeneity, the genetic basis of ID remains elusive in many cases. Recently, whole exome sequencing (WES) studies revealed that a large proportion of sporadic cases are caused by de novo gene variants. To identif...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Kuechler, Alma, Zink, Alexander M, Wieland, Thomas, Lüdecke, Hermann-Josef, Cremer, Kirsten, Salviati, Leonardo, Magini, Pamela, Najafi, Kimia, Zweier, Christiane, Czeschik, Johanna Christina, Aretz, Stefan, Endele, Sabine, Tamburrino, Federica, Pinato, Claudia, Clementi, Maurizio, Gundlach, Jasmin, Maylahn, Carina, Mazzanti, Laura, Wohlleber, Eva, Schwarzmayr, Thomas, Kariminejad, Roxana, Schlessinger, Avner, Wieczorek, Dagmar, Strom, Tim M, Novarino, Gaia, Engels, Hartmut
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795044/
https://ncbi.nlm.nih.gov/pubmed/25138099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.165
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