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

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 congenital anomalies involve the palate in 80% of patients, and the heart in 50–60% of them. The cau...

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Detalles Bibliográficos
Autores principales: Rozas, M. Fernanda, Benavides, Felipe, León, Luis, Repetto, Gabriela M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688301/
https://www.ncbi.nlm.nih.gov/pubmed/31399107
http://dx.doi.org/10.1186/s13023-019-1170-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688301/
https://www.ncbi.nlm.nih.gov/pubmed/31399107
http://dx.doi.org/10.1186/s13023-019-1170-x

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