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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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書誌詳細
主要な著者: Goldmuntz, E, Driscoll, D, Budarf, M L, Zackai, E H, McDonald-McGinn, D M, Biegel, J A, Emanuel, B S
フォーマット: Artigo
言語:Inglês
出版事項: 1993
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016559/
https://ncbi.nlm.nih.gov/pubmed/7901419
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