De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.
about
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysisRole of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.VATER/VACTERL Association: Evidence for the Role of Genetic FactorsDe novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomaliFamilial occurrence of the VATER/VACTERL association.Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.
P2860
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P2860
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
De novo deletion of chromosome ...... es GTPBP5 as a candidate gene.
@ast
De novo deletion of chromosome ...... es GTPBP5 as a candidate gene.
@en
type
label
De novo deletion of chromosome ...... es GTPBP5 as a candidate gene.
@ast
De novo deletion of chromosome ...... es GTPBP5 as a candidate gene.
@en
prefLabel
De novo deletion of chromosome ...... es GTPBP5 as a candidate gene.
@ast
De novo deletion of chromosome ...... es GTPBP5 as a candidate gene.
@en
P2093
P2860
P356
P1476
De novo deletion of chromosome ...... es GTPBP5 as a candidate gene.
@en
P2093
Amelia A Keaton
Aparna Kamat
Benjamin D Solomon
Daniel E Pineda-Alvarez
Donald W Hadley
Hannah E Carlson-Donohoe
Manu S Raam
Nneamaka B Agochukwu
Settara C Chandrasekharappa
P2860
P304
P356
10.1002/BDRA.20821
P577
2011-05-23T00:00:00Z