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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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Библиографические подробности
Главные авторы: Halder, Ashutosh, Jain, Manish, Chaudhary, Isha, Varma, Binuja
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2012
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Online-ссылка: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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