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Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Congenital conotruncal cardiac defects occur with increased frequency in patients with DiGeorge syndrome (DGS). Previous studies have shown that the majority of patients with DGS or velocardiofacial syndrome (VCFS) have a microdeletion within chromosomal region 22q11. We hypothesised that patients w...

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Detalles Bibliográficos
Publicado en:J Med Genet
Principais autores: Goldmuntz, E, Driscoll, D, Budarf, M L, Zackai, E H, McDonald-McGinn, D M, Biegel, J A, Emanuel, B S
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 1993
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016559/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7901419/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.10.807
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