Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
about
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
P2860
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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name
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
@en
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
@nl
type
label
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
@en
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
@nl
prefLabel
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
@en
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
@nl
P2093
P2860
P50
P356
P1433
P1476
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy
@en
P2093
M Vekemans
M-L Jacquemont
P2860
P356
10.1111/CGE.12567
P577
2015-03-05T00:00:00Z