Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

It is well established that DiGeorge syndrome (DGS) may be associated with monosomy of 22q11-pter. More recently, DNA probes have been used to detect hemizygosity for this region in patients with no visible karyotypic abnormality. However, DGS has also been described in cases where the cytogenetic a...

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Autori principali: Carey, A. H., Kelly, D., Halford, S., Wadey, R., Wilson, D., Goodship, J., Burn, J., Paul, T., Sharkey, A., Dumanski, J., Nordenskjold, M., Williamson, R., Scambler, P. J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1992
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682857/
https://ncbi.nlm.nih.gov/pubmed/1415265
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