WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W. M. van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond, Renaud Touraine, Julien Thevenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover-Fong, Ceren D. Durmaz, Halil Gurhan Karabulut, Ebru Marzioglu-Ozdemir, Atilla CayirMehmet B. Duz, Mehmet Seven, Susan Price, Barbara Merfort Ferreira, Angela M. Vianna-Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N. Jhangiani, Richard A. Gibbs, Han G. Brunner, V. Reid Sutton, James R. Lupski, Claudia M. B. Carvalho, Baylor-Hopkins Ctr Mendelian

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)27-43
Number of pages17
JournalAmerican Journal of Human Genetics
Volume102
Issue number1
DOIs
Publication statusPublished - 4 Jan 2018

Keywords

  • NEURAL-TUBE DEFECTS
  • DROSOPHILA TISSUE POLARITY
  • AUTOSOMAL-DOMINANT
  • CELL POLARITY
  • VERTEBRATE GASTRULATION
  • MENDELIAN-INHERITANCE
  • GROWTH-PLATE
  • DEP DOMAIN
  • MUTATIONS
  • PROTEIN

Cite this

White, J. J., Mazzeu, J. F., Coban-Akdemir, Z., Bayram, Y., Bahrambeigi, V., Hoischen, A., van Bon, B. W. M., Gezdirici, A., Gulec, E. Y., Ramond, F., Touraine, R., Thevenon, J., Shinawi, M., Beaver, E., Heeley, J., Hoover-Fong, J., Durmaz, C. D., Karabulut, H. G., Marzioglu-Ozdemir, E., ... Baylor-Hopkins Ctr Mendelian (2018). WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics, 102(1), 27-43. https://doi.org/10.1016/j.ajhg.2017.10.002