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Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

BACKGROUND: Ring chromosome 6 is a rare constitutional abnormality that generally occurs de novo. The related phenotype may be highly variable ranging from an almost normal phenotype to severe malformations and mental retardation. These features are mainly present when genetic material at the end of...

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Bibliografski detalji
Glavni autori: Ciocca, Laura, Surace, Cecilia, Digilio, Maria Cristina, Roberti, Maria Cristina, Sirleto, Pietro, Lombardo, Antonietta, Russo, Serena, Brizi, Valerio, Grotta, Simona, Cini, Claudio, Angioni, Adriano
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2013
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3599180/
https://ncbi.nlm.nih.gov/pubmed/23398904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8794-6-3
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