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

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., Douglas, S. L., Wainwright, A., Bailey, K., Wordsworth, P., Oldridge, M., Lester, T., … Carvalho, C. M. B. (2022). Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. Human Genetics and Genomics Advances, 3(1), 100074. https://doi.org/10.1016/j.xhgg.2021.100074
Authors:
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
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
Affiliated Authors:
Wendy K Chung
Columbia Affiliation:
Author Keywords:
dvl2
hpo terms
genotype-phenotype correlation
indel mutations
molecular diagnosis
quantitative phenotyping cluster heatmap
screw-tail breed dogs
skeletal dysplasia
traits and omim clinical synopsis
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Publication Type:
Article
Unique ID:
10.1016/j.xhgg.2021.100074
PMID:
35047859
DOI:
10.1016/j.xhgg.2021.100074
Journal:
Human Genetics and Genomics Advances
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: