Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Titel:
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Auteur:
Zhang, Chaofan Jolly, Angad Shayota, Brian J. Mazzeu, Juliana F. Du, Haowei Dawood, Moez Soper, Patricia Celestino Ramalho de Lima, Ariadne Ferreira, Bárbara Merfort Coban-Akdemir, Zeynep White, Janson Shears, Deborah Thomson, Fraser Robert Douglas, Sarah Louise Wainwright, Andrew Bailey, Kathryn Wordsworth, Paul Oldridge, Mike Lester, Tracy Calder, Alistair D. Dumic, Katja Banka, Siddharth Donnai, Dian Jhangiani, Shalini N. Potocki, Lorraine Chung, Wendy K. Mora, Sara Northrup, Hope Ashfaq, Myla Rosenfeld, Jill A. Mason, Kati Pollack, Lynda C. McConkie-Rosell, Allyn Kelly, Wei McDonald, Marie Hauser, Natalie S. Leahy, Peter Powell, Cynthia M. Boy, Raquel Honjo, Rachel Sayuri Kok, Fernando Martelli, Lucia R. Filho, Vicente Odone Genomics England Research Consortium, Muzny, Donna M. Gibbs, Richard A. Posey, Jennifer E. Liu, Pengfei Lupski, James R. Sutton, V. Reid Carvalho, Claudia M.B.