A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
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A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
A de novo splice site mutation in EHMT1 resulting in Kleefstra
Postzygotic single-nucleotide mosaicisms in whole-genome sequences
PDF) A Novel Kleefstra Syndrome Associated Variant that Affects
PDF) A Novel Kleefstra Syndrome Associated Variant that Affects
Kleefstra Syndrome - GeneReviews® - NCBI Bookshelf
A de novo splice site mutation in EHMT1 resulting in Kleefstra
A mosaic maternal splice donor mutation in the EHMT1 gene leads to
PDF) EHMT1 mosaicism in apparently unaffected parents is
Kleefstra-variant syndrome with heterozygous mutations in EHMT1
Postzygotic single-nucleotide mosaicisms in whole-genome sequences
PDF) A de novo splice site mutation in EHMT1 resulting in
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