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

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Rozas et al 22q11 deletion size Orphanet RDJ 2019 - Maria gabriela Repetto.pdf (1.66 MB)

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2019

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Article

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Artículos Medicina y Ciencias de la Salud

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60

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1
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http://hdl.handle.net/11447/2983
 https://doi.org/10.1186/s13023-019-1170-x

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9 p.

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Abstract

Background: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common ...

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Citation

Orphanet Journal of Rare Diseases, 2019, 14:195

Keywords

Congenital heart defects , Chromosome 22q11.2 deletion syndrome , DiGeorge syndrome , Meta-analysis , Palate anomalies , Systematic review , Velocardiofacial syndrome

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