Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
about
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesGlutamate receptor mutations in psychiatric and neurodevelopmental disorders.Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.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.Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome
P2860
Q30009531-7B208F1D-A78B-492B-8E3A-EDBD4254C5D0Q33617351-43B9974E-8CB7-426A-8E13-0F30E9B1047BQ37607775-316EF76A-DD6F-45FD-88E9-358DD38C3ADFQ48331170-5BA700D2-57A0-480A-B309-BE94647AF0B5Q50556864-E96D9396-6D06-48A7-9943-06AE1702F719Q52702062-6B3E8372-1523-43AD-A33E-3A2774A9D6CBQ57573621-E8044DF1-7615-43B7-92F1-7DB6EE7558AD
P2860
Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年學術文章
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2013年學術文章
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2013年學術文章
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name
Xq25 duplications encompassing ...... distinctive facial appearance.
@en
Xq25 duplications encompassing ...... distinctive facial appearance.
@nl
type
label
Xq25 duplications encompassing ...... distinctive facial appearance.
@en
Xq25 duplications encompassing ...... distinctive facial appearance.
@nl
prefLabel
Xq25 duplications encompassing ...... distinctive facial appearance.
@en
Xq25 duplications encompassing ...... distinctive facial appearance.
@nl
P2860
P50
P356
P1476
Xq25 duplications encompassing ...... distinctive facial appearance.
@en
P2093
Marie-Line Jacquemont
Sylvie Odent
P2860
P304
P356
10.1002/AJMG.A.35307
P407
P50
P577
2013-05-01T00:00:00Z