Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.
about
Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits.Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects.Prevalence of SHOX haploinsufficiency among short statured children.Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
P2860
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Spectrum of phenotypic anomali ...... n of the SHOX enhancer region.
@ast
Spectrum of phenotypic anomali ...... n of the SHOX enhancer region.
@en
type
label
Spectrum of phenotypic anomali ...... n of the SHOX enhancer region.
@ast
Spectrum of phenotypic anomali ...... n of the SHOX enhancer region.
@en
prefLabel
Spectrum of phenotypic anomali ...... n of the SHOX enhancer region.
@ast
Spectrum of phenotypic anomali ...... n of the SHOX enhancer region.
@en
P2093
P2860
P356
P1433
P1476
Spectrum of phenotypic anomali ...... on of the SHOX enhancer region
@en
P2093
Angelika Mohn
Antonio Raffaele Cotroneo
Chiara Palka
Francesco Chiarelli
Giovanni Cannataro
Massimo Savastano
Sara Franchi
Valentina Chiavaroli
P2860
P2888
P356
10.1186/1471-2350-15-87
P577
2014-07-23T00:00:00Z
P5875
P6179
1003916526