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Phenotypic Modifications of Patients with Full Chromosome Aneuploidies and Concurrent Suspected or Confirmed Second Diagnoses

The coexistence of two or more distinct genetic conditions is known to be a rare phenomenon. Full chromosome aneuploidies can be associated with a broad variety of cytogenetic abnormalities or single gene disorders resulting in phenotypic modifications that confuse the diagnostic process. We present...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Zarate, Yuri A., Bosanko, Katherine A., Bhoj, Elizabeth, Ganetzky, Rebecca, Starr, Lois J., Zackai, Elaine H., Schaefer, G. Bradley
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5833020/
https://ncbi.nlm.nih.gov/pubmed/25914130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37126
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