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Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature

Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving 4q21.3, unre...

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書誌詳細
主要な著者: Dukes-Rimsky, Lynn, Guzauskas, Gregory F., Holden, Kenton R., Griggs, Rachel, Ladd, Sydney, del Carmen Montoya, Maria, DuPont, Barbara R., Srivastava, Anand K.
フォーマット: Artigo
言語:Inglês
出版事項: 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3325782/
https://ncbi.nlm.nih.gov/pubmed/21834054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34137
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