A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

BACKGROUND: Proximal 22q is rich in low copy repeats (LCRs) which mediate non-allelic homologous recombination and give rise to deletions and duplications of varying size depending on which LCRs are involved. METHODS: A child with multiple septal defects and other congenital anomalies was investigat...

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Hlavní autoři: Ogilvie, Caroline Mackie, Ahn, Joo Wook, Mann, Kathy, Roberts, Roland G, Flinter, Frances
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2009
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2669095/
https://ncbi.nlm.nih.gov/pubmed/19239688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-2-9
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