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A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome

BACKGROUND: Microduplications 22q11 have been characterized as a genomic duplication syndrome mediated by nonallelic homologous recombination between region-specific low-copy repeats. Here we report on a 19 years old boy with intellectual disability having an unexpected structurally complex ring sma...

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Main Authors: Haltrich, Irén, Pikó, Henriett, Kiss, Eszter, Tóth, Zsuzsa, Karcagi, Veronika, Fekete, György
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2014
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4067088/
https://ncbi.nlm.nih.gov/pubmed/24959203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-37
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