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Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Exact breakpoint determination by oligonucleotide array-CGH has improved the analysis of genotype-phenotype correlations in cases with chromosome aberrations allowing a more accurate definition of relevant genes, particularly their isolated or combined impact on the phenotype in an unbalanced state....

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Detalles Bibliográficos
Autores principales:	Sheth, Frenny, Andrieux, Joris, Tewari, Stuti, Sheth, Harsh, Desai, Manisha, Kumari, Pritti, Nanavaty, Nidhish, Sheth, Jayesh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750467/ https://www.ncbi.nlm.nih.gov/pubmed/23815819 http://dx.doi.org/10.1186/1755-8166-6-24

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