Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diagnostic criteria. Characteristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular mal...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Lalani, Seema R., Safiullah, Arsalan M., Fernbach, Susan D., Harutyunyan, Karine G., Thaller, Christina, Peterson, Leif E., McPherson, John D., Gibbs, Richard A., White, Lisa D., Hefner, Margaret, Davenport, Sandra L. H., Graham, John M., Bacino, Carlos A., Glass, Nancy L., Towbin, Jeffrey A., Craigen, William J., Neish, Steven R., Lin, Angela E., Belmont, John W.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2006
Onderwerpen:
Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380237/
https://ncbi.nlm.nih.gov/pubmed/16400610
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items