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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC550653/
https://www.ncbi.nlm.nih.gov/pubmed/15710038
http://dx.doi.org/10.1186/1471-2350-6-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC550653/
https://www.ncbi.nlm.nih.gov/pubmed/15710038
http://dx.doi.org/10.1186/1471-2350-6-8

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