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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Autori principali: Bittel, D.C., Yu, S., Newkirk, H., Kibiryeva, N., Holt, S., Butler, M.G., Cooley, L.D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2009
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Original Article
Accesso online: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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