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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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Autors principals: Bittel, D.C., Yu, S., Newkirk, H., Kibiryeva, N., Holt, S., Butler, M.G., Cooley, L.D.
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2009
Matèries:
Accés en línia: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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