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 15 junho 2024
Using whole-exome sequencing to identify variants inherited from
EHMT1 Gene - GeneCards, EHMT1 Protein
A mosaic maternal splice donor mutation in the EHMT1 gene leads to
PDF) Cytogenetic and Molecular Genetic Characterization of
EHMT1 Gene - GeneCards, EHMT1 Protein
A mosaic maternal splice donor mutation in the EHMT1 gene leads to
Kleefstra syndrome: Recurrence in siblings due to a paternal
PDF) A Novel Kleefstra Syndrome Associated Variant that Affects
Short Report European Journal of Human Genetics
Postzygotic single-nucleotide mosaicisms in whole-genome sequences
PDF) A de novo splice site mutation in EHMT1 resulting in
PDF) EHMT1 mosaicism in apparently unaffected parents is
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a
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