Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
about
A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteinsHuman Ring Chromosomes - New Insights for their Clinical Significance.Marker chromosomes.Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.
P2860
Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
Severe phenotype resulting fro ...... isation and replication study.
@ast
Severe phenotype resulting fro ...... isation and replication study.
@en
type
label
Severe phenotype resulting fro ...... isation and replication study.
@ast
Severe phenotype resulting fro ...... isation and replication study.
@en
prefLabel
Severe phenotype resulting fro ...... isation and replication study.
@ast
Severe phenotype resulting fro ...... isation and replication study.
@en
P2093
P2860
P356
P1476
Severe phenotype resulting fro ...... isation and replication study.
@en
P2093
Croquette MF
Depetris D
Stavropoulou C
P2860
P304
P356
10.1136/JMG.35.11.932
P407
P577
1998-11-01T00:00:00Z