Concepedia

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

Julie Hoover‐Fong, William Savage, Emily C. Lisi, Jerry A. Winkelstein, G. H. Thomas, Lies H. Hoefsloot, David M. Loeb

The Journal of Pediatrics · 2008 · 14 citations · 14 references

DOI

Concepts

References

14

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal et al. · Nature Genetics · 2004 · 1.3K citations

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Characterization of the CHD family of proteins

Trevor Woodage, Munira A. Basrai, Andreas D. Baxevanis et al. · Proceedings of the National Academy of Sciences · 1997 · 395 citations

, , +17

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

Seema R. Lalani, Arsalan M. Safiullah, Susan Fernbach et al. · The American Journal of Human Genetics · 2006 · 393 citations · Full text

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Updated diagnostic criteria for CHARGE syndrome: A proposal

Alain Verloès · American Journal of Medical Genetics Part A · 2005 · 377 citations · Full text

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Phenotypic spectrum of CHARGE syndrome in fetuses with <i>CHD7</i> truncating mutations correlates with expression during human development

Damien Sanlaville, Heather Etchevers, Marie Gonzalès et al. · Journal of Medical Genetics · 2005 · 239 citations · Full text

, , +16