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1. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Author

Sanlaville, D., Etchevers, H.C., Gonzales, M., Martinovic, J., Clement-Ziza, M., Delezoide, A.-L., Aubry, M.-C., Pelet, A., Chemouny, S., Cruaud, C., Audollent, S., Esculpavit, C., Goudefroye, G., Ozilou, C., Fredouille, C., Joye, N., Morichon-Delvallez, N., Dumez, Y., Weissenbach, J., Munnich, A., Amiel, J., Encha-Razavi, F., Lyonnet, S., Vekemans, M., and Attie-Bitach, T.

Subjects
Birth defects -- Genetic aspects, Birth defects -- Diagnosis, Gene mutations -- Analysis, Phenotype -- Analysis, Health
Published
2006

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