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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Bibliografske podrobnosti
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2005
Teme:
Research Article
Online dostop: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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