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Genomic analysis of partial 21q monosomies with variable phenotypes

Partial monosomy 21 was recently segregated into three regions associated with variable clinical severity. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping and G-banded karyotyping. Cohort A consisted of three patients seen in our medical genetics clinics...

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Autori principali: Roberson, Elisha D O, Wohler, Elizabeth Squibb, Hoover-Fong, Julie E, Lisi, Emily, Stevens, Eric L, Thomas, George H, Leonard, Jay, Hamosh, Ada, Pevsner, Jonathan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3025784/
https://ncbi.nlm.nih.gov/pubmed/20823914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.150
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