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Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3)

Submicroscopic duplications in the Miller-Dieker critical region have been recently described as new genomic disorders. To date, only a few cases have been reported with overlapping 17p13.3 duplications in this region. Also, small deletions that affect chromosome region 10p14→pter are rarely describ...

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Autors principals: Ruiz Esparza-Garrido, R., Velázquez-Wong, A.C., Araujo-Solís, M.A., Huicochea-Montiel, J.C., Velázquez-Flores, M.Á., Salamanca-Gómez, F., Arenas-Aranda, D.J.
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542935/
https://ncbi.nlm.nih.gov/pubmed/23326253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000339639
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