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In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?

BACKGROUND: 22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22) (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011). Thi...

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Detalles Bibliográficos
Autores principales: Motahari, Zahra, Moody, Sally Ann, Maynard, Thomas Michael, LaMantia, Anthony-Samuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554986/
https://www.ncbi.nlm.nih.gov/pubmed/31174463
http://dx.doi.org/10.1186/s11689-019-9267-z