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Microduplications of 1q32.1 associated with neurodevelopmental delay

Distal partial trisomies involving the region 1q32 have been associated with dysmorphic features and developmental delay.[1–11] To further define the critical region for developmental delay and to investigate the genotype-phenotype association of 1q trisomy syndrome, we report two patients with much...

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Autori principali: Olson, HE, Shen, Y, Poduri, A, Gorman, MP, Dies, KA, Robbins, M, Hundley, R, Wu, B, Sahin, M
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3288188/
https://ncbi.nlm.nih.gov/pubmed/22266072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2011.12.008
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