DVL3 Alleles Resulting in a-1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Janson J. White, Juliana E. Mazzeu, Alexander Hoischen, Yavuz Bayram, Marjorie Withers, Alper Gezdirici, Virginia Kimonis, Marloes Steehouwer, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Bregje W. M. van Bon, V. Reid Sutton, James R. Lupski, Han G. Brunner, Claudia M. B. Carvalho

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)
Original languageEnglish
Pages (from-to)553-561
JournalAmerican Journal of Human Genetics
Volume98
Issue number3
DOIs
Publication statusPublished - 3 Mar 2016

Cite this

White, J. J., Mazzeu, J. E., Hoischen, A., Bayram, Y., Withers, M., Gezdirici, A., Kimonis, V., Steehouwer, M., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., van Bon, B. W. M., Sutton, V. R., Lupski, J. R., Brunner, H. G., & Carvalho, C. M. B. (2016). DVL3 Alleles Resulting in a-1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. American Journal of Human Genetics, 98(3), 553-561. https://doi.org/10.1016/j.ajhg.2016.01.005