SNP genotyping to screen for a common deletion in CHARGE Syndrome

BACKGROUND: CHARGE syndrome is a complex of birth defects including coloboma, choanal atresia, ear malformations and deafness, cardiac defects, and growth delay. We have previously hypothesized that CHARGE syndrome could be caused by unidentified genomic microdeletion, but no such deletion was detec...

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Autori principali: Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, Glass, Nancy L, Towbin, Jeffrey A, Craigen, William J, Belmont, John W
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2005
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC550653/
https://ncbi.nlm.nih.gov/pubmed/15710038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-8
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