Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

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

Publikováno v: Human Genetics and Genomics Advances
HGG Advances, Vol 3, Iss 1, Pp 100074-(2022)
Zhang, C, Jolly, A, Shayota, B J, Mazzeu, J F, Du, H, Dawood, M, Soper, P C, Ramalho de Lima, A, Ferreira, B M, Coban-Akdemir, Z, White, J, Shears, D, Thomson, F R, Wainwright, A, Wordsworth, P, Oldridge, M, Lester, T, Calder, A D, Dumic, K, Banka, S, Donnai, D, Jhangiani, S N, Potocki, L, Chung, W K, Mora, S, Northrup, H, Ashfaq, M, Rosenfeld, J A, Mason, K, Pollack, L C, McConkie-Rosell, A, Kelly, W, McDonald, M, Hauser, N S, Leahy, P, Powell, C M, Boy, R, Honjo, R S, Kok, F, Martelli, L R, Filho, V O, Genomics England Research Consortium, Muzny, D M, Gibbs, R A, Posey, J E, Liu, P, Lupski, J R & Sutton, V R 2022, ' Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability ', Human Genetics and Genomics Advances, vol. 3, no. 1, 100074 . https://doi.org/10.1016/j.xhgg.2021.100074

Summary Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e77b81a3eca2f20efcc27c10f904b73
https://pubmed.ncbi.nlm.nih.gov/35047859