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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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| Главные авторы: | , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2011
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| Предметы: | |
| Online-ссылка: | 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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