X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
about
Intellectual Disability: When the Hypertrichosis Is a ClueWAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
P2860
Q28080244-B65A27AF-D3B2-401D-B35C-D15B8CDBCCAFQ38564668-7515352E-A4BF-420E-B860-B08D86E86B1FQ42215618-4E28C287-0638-457C-BA80-2982D449524EQ48072395-294E71D2-23D7-43ED-8B19-1952AE32B959Q48374194-2888BCAC-0DA8-449C-A046-C07CC8A1829FQ52735734-25F17C42-EEB9-4589-937C-BBBD63030DA3Q55058584-08E215C7-AD7D-46AD-B515-E20EB5B3CFAE
P2860
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
X-linked intellectual disabili ...... probably underdiagnosed entity
@ast
X-linked intellectual disabili ...... probably underdiagnosed entity
@en
X-linked intellectual disabili ...... robably underdiagnosed entity.
@nl
type
label
X-linked intellectual disabili ...... probably underdiagnosed entity
@ast
X-linked intellectual disabili ...... probably underdiagnosed entity
@en
X-linked intellectual disabili ...... robably underdiagnosed entity.
@nl
prefLabel
X-linked intellectual disabili ...... probably underdiagnosed entity
@ast
X-linked intellectual disabili ...... probably underdiagnosed entity
@en
X-linked intellectual disabili ...... robably underdiagnosed entity.
@nl
P2093
P2860
P50
P356
P1476
X-linked intellectual disabili ...... probably underdiagnosed entity
@en
P2093
Alison Male
Alma Kuechler
Andreas Tzschach
Angelika Rieß
Claudia Dufke
Dagmar Wieczorek
Deborah Morrogh
Diana S Johnson
Peter Bauer
Udo Koehler
P2860
P2888
P356
10.1186/1750-1172-8-146
P577
2013-09-21T00:00:00Z
P5875
P6179
1030049232