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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...
Autores principales: | Ogilvie, Caroline Mackie, Ahn, Joo Wook, Mann, Kathy, Roberts, Roland G, Flinter, Frances |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2669095/ https://www.ncbi.nlm.nih.gov/pubmed/19239688 http://dx.doi.org/10.1186/1755-8166-2-9 |
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