A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.
about
Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individualsUsing whole-exome sequencing to identify variants inherited from mosaic parentsA Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the Gene: An Underrecognized Association
P2860
Q28397138-E3E79575-FB37-437B-9DA9-4C3CC7050543Q36338167-6C336CFE-CFF3-4F76-8EA7-F247FA9B5EA5Q37683874-1540A244-A71F-40B2-B9FF-E10ADD0D86DEQ42293521-4D05F27C-786B-41FA-BD59-06685725C2E8Q48257569-C1A8910D-EF13-4FCA-8717-6695DF1D8CADQ49231811-37A9AACA-C02C-4BBE-B6B6-B1A22D8ADC90Q58123774-0A223B77-BA33-4EC4-A2F1-4BFC083FA08E
P2860
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@ast
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@en
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@nl
type
label
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@ast
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@en
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@nl
prefLabel
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@ast
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@en
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@nl
P2093
P2860
P356
P1476
A mosaic maternal splice donor ...... tra syndrome in the offspring.
@en
P2093
Andreas Tzschach
Evelin Schrock
Laura Hildebrand
Reinhard Ullmann
P2860
P2888
P304
P356
10.1038/EJHG.2012.267
P577
2012-12-12T00:00:00Z