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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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Detalles Bibliográficos
Autores principales: Halder, Ashutosh, Jain, Manish, Chaudhary, Isha, Varma, Binuja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325853/
https://www.ncbi.nlm.nih.gov/pubmed/22413934
http://dx.doi.org/10.1186/1755-8166-5-13