A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Por um escritor misterioso
Last updated 28 junho 2024
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2012.267/MediaObjects/41431_2013_Article_BFejhg2012267_Fig1_HTML.jpg)
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fejhg.2014.125/MediaObjects/41431_2015_Article_BFejhg2014125_Fig2_HTML.jpg)
Using whole-exome sequencing to identify variants inherited from
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://www.frontiersin.org/files/Articles/881838/fped-10-881838-HTML-r2/image_m/fped-10-881838-g001.jpg)
A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://onlinelibrary.wiley.com/cms/asset/8aeb1087-ff6b-4f6c-8deb-1a6d2bbc9bfb/mgg31880-fig-0003-m.jpg)
Detection of germline mosaicism in fathers of children with
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://media.springernature.com/w290h158/springer-static/image/art%3A10.1038%2Fejhg.2012.268/MediaObjects/41431_2013_Article_BFejhg2012268_Fig1_HTML.jpg)
Short Report in 2012 European Journal of Human Genetics
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://cdn.genecards.org/protein-expression-v5-18/protein_expression_EHMT1.png)
EHMT1 Gene - GeneCards, EHMT1 Protein
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://www.researchgate.net/profile/Raul-Urrutia/publication/312100604/figure/fig4/AS:451360652042245@1484624173712/Interaction-of-EHMT1-with-the-dimethylated-histone-H3-Lys9-peptide_Q320.jpg)
PDF) A Novel Kleefstra Syndrome Associated Variant that Affects
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://www.mdpi.com/genes/genes-13-00335/article_deploy/html/images/genes-13-00335-g001.png)
A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://media.springernature.com/lw685/springer-static/image/chp%3A10.1007%2F978-3-030-14792-1_16/MediaObjects/468853_1_En_16_Fig5_HTML.png)
G9a and G9a-Like Histone Methyltransferases and Their Effect on
G9a and G9a-Like Histone Methyltransferases and Their Effect on
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://cyberleninka.org/viewer_images/347511/f/1.png)
A de novo splice site mutation in EHMT1 resulting in Kleefstra
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://ars.els-cdn.com/content/image/1-s2.0-S002839081200562X-gr2.jpg)
An epigenetic framework for neurodevelopmental disorders: From
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