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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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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2012
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| Assuntos: | |
| Acesso em linha: | 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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