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 17 julho 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://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
![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/w136h75/springer-static/image/art%3A10.1038%2Fs41436-021-01291-x/MediaObjects/41436_2021_1291_Fig1_HTML.png)
A mosaic maternal splice donor mutation in the EHMT1 gene leads to
![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-11-00344/article_deploy/html/images/genes-11-00344-g001-550.jpg)
Genes, Free Full-Text
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://media.githubusercontent.com/media/aminodektc/23/master/EHMT1/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://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://cdn.genecards.org/protein-structure-v5-18/alphaFold/AF-Q9H9B1-F1_model-1.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://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2014.125/MediaObjects/41431_2015_Article_BFejhg2014125_Fig1_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://onlinelibrary.wiley.com/cms/asset/be3ab39c-a694-4585-ba0c-1e4c7811c069/mgg31880-fig-0002-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/lw685/springer-static/image/art%3A10.1186%2Fs13148-019-0802-2/MediaObjects/13148_2019_802_Fig2_HTML.png)
A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
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