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  4. Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
Details

Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

Journal
Orphanet Journal of Rare Diseases
ISSN
1750-1172
Date Issued
2019
Author(s)
M. Fernanda Rozas
BENAVIDES GONZALEZ, FELIPE ORLANDO  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Luis León
REPETTO LISBOA, MARIA GABRIELA  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85070475677
WoS ID
WOS:000480488500002
DOI
10.1186/s13023-019-1170-x
URL
https://investigadores.udd.cl/handle/123456789/3625
URL Institutional Repository
http://hdl.handle.net/11447/2983
Cite this document
Rozas, M. F., Benavides, F., León, L., & Repetto, G. M. (2019). Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: Systematic review and meta-analysis. Orphanet Journal of Rare Diseases, 14(1), 195. https://doi.org/10.1186/s13023-019-1170-x
Project(s)
Genetic modifiers of the cardiovascular phenotype of chromosome 22q11 micro deletion syndrome: Next-generation sequencing of candidate regions identified by genome-wide association analysis  
Prodromal manifestations of Parkinson´s disease in a high-risk population: 22q11.2 microdeletion syndrome  
Subjects
congenital heart defects

; 

chromosome 22q11

; 

2 deletion syndrome

; 

digeorge syndrome

; 

meta-analysis

; 

palate anomalies

; 

systematic review

; 

velocardiofacial syndrome

; 

arachnodactyly

; 

chromosome deletion

; 

craniosynostoses

; 

humans

; 

marfan syndrome

; 

phenotype

; 

aortic arch interruption

; 

article

; 

chilean

; 

chromosome deletion 22q11

; 

cleft lip palate

; 

cleft palate

; 

congenital heart disease

; 

disease course

; 

fallot tetralogy

; 

gene deletion

; 

genetic association

; 

heart atrium septum defect

; 

heart right ventricle double outlet

; 

heart ventricle septum defect

; 

human

; 

palate malformation

; 

palatopharyngeal incompetence

; 

phenotype

; 

pulmonary valve atresia

; 

segmental duplication

; 

systematic review

; 

arachnodactyly

; 

chromosome deletion

; 

craniofacial synostosis

; 

genetics

; 

marfan syndrome

; 

meta analysis

; 

phenotype
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