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Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin had milder anomalies without any cardiac malformation. The second twin had presented with in...
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| Główni autorzy: | , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2012
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3325853/ https://ncbi.nlm.nih.gov/pubmed/22413934 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-5-13 |
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