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 05 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://www.ncbi.nlm.nih.gov/books/NBK47079/bin/kleefstra-Image001.jpg)
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://www.jbc.org/cms/asset/71dd552a-f96e-4619-8b72-7288ed6b53e0/tbl1_lrg.jpg)
A Novel Kleefstra Syndrome-associated Variant That Affects the
![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.2013.13/MediaObjects/41431_2013_Article_BFejhg201313_Fig1_HTML.jpg)
Short Report 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://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41431-023-01339-3/MediaObjects/41431_2023_1339_Fig1_HTML.png)
Abstracts from the 55th European Society of Human Genetics (ESHG
![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://www.researchgate.net/publication/329018915/figure/tbl1/AS:11431281079506586@1660732038767/Clinical-comparison-of-the-patients-in-the-present-study-and-typical-KS-phenotypes_Q320.jpg)
New Insights into Kleefstra Syndrome: Report of Two Novel Cases
![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://static.hindawi.com/articles/crie/volume-2018/4283267/figures/4283267.fig.001.jpg)
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://cdn.genecards.org/rna-expression-v5-18/gene_expression_EHMT1_BioGPS.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/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
![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.2012.187/MediaObjects/41431_2013_Article_BFejhg2012187_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://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fcr.2014.131/MediaObjects/41422_2014_Article_BFcr2014131_Fig4_HTML.jpg)
Postzygotic single-nucleotide mosaicisms in whole-genome sequences
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