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Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH

Hemizygous deletions of the chromosome 22q11.2 region result in the 22q11.2 deletion syndrome also referred to as DiGeorge, Velocardiofacial or Shprintzen syndromes. The phenotype is variable but commonly includes conotruncal cardiac defects, palatal abnormalities, learning and behavioral problems,...

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Detalhes bibliográficos
Main Authors: Bittel, D.C., Yu, S., Newkirk, H., Kibiryeva, N., Holt, S., Butler, M.G., Cooley, L.D.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2919456/
https://ncbi.nlm.nih.gov/pubmed/19420922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000207515
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