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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Last updated 12 abril 2025


A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF

Reprogramming of the epigenome in neurodevelopmental disorders
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a

Postzygotic single-nucleotide mosaicisms in whole-genome sequences

A Novel Kleefstra Syndrome-associated Variant That Affects the

EHMT1 Gene - GeneCards, EHMT1 Protein

PDF) A de novo splice site mutation in EHMT1 resulting in
A de novo splice site mutation in EHMT1 resulting in Kleefstra

A de novo splice site mutation in EHMT1 resulting in Kleefstra

Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a

Kleefstra-variant syndrome with heterozygous mutations in EHMT1

Detection of germline mosaicism in fathers of children with
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