A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Descrição
![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/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
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://pub.mdpi-res.com/genes/genes-11-00344/article_deploy/html/images/genes-11-00344-ag.png?1585804133)
Genes, Free Full-Text
![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-S0021925820348936-gr5.jpg)
A Novel Kleefstra Syndrome-associated Variant That Affects the
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a
![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%2Fs41525-021-00183-y/MediaObjects/41525_2021_183_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://d3i71xaburhd42.cloudfront.net/71ce14c1aa49f5b1b388dbf3fe1adbeb12f19760/2-Figure2-1.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://www.researchgate.net/publication/311918791/figure/tbl1/AS:667818391531521@1536231720228/Pharmacogenomically-relevant-variations-identified-in-AH-using-genotyping-methods_Q320.jpg)
PDF) A de novo splice site mutation in EHMT1 resulting in
de
por adulto (o preço varia de acordo com o tamanho do grupo)