Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

Authors

M. Chiara Manzini, Boston Children's HospitalFollow
Dimira E. Tambunan, Boston Children's Hospital
R. Sean Hill, Boston Children's Hospital
Tim W. Yu, Boston Children's Hospital
Thomas M. Maynard, George Washington UniversityFollow
+18 additional authors

Document Type

Journal Article

Publication Date

9-7-2012

Journal

American Journal of Human Genetics

Volume

Volume 91, Issue 3

Inclusive Pages

541-547

Keywords

Glycosyltransferases--genetics; Walker-Warburg Syndrome--genetics

Comments

This is a PubMed Central article. Click on link for full-text access.

APA Citation

Manzini, M.C., Tambunan, D.E., Hill, R.S., Yu, T.W., Maynard, T.M., Heinzen, E.L., Shianna, K.V., Stevens, C.R., Partlow, J.N., Barry, B.J., Rodriguez, J., Gupta, V.A., Al-Qudah, A.,, Eyaid, W.M., Friedman, J.M., Salih, M.A., Clark, R., Moroni, I., Mora, M., Beggs, A.H., Gabriel, S.B., Walsh, C.A. (2012). Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome. Am.J.Hum.Genet., 91(3), 541-547.

Peer Reviewed

1

Open Access

1