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Paper Details

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
HGG Adv
18
2021
HPO, Human, Mendelian disease, RS, Robinow syndrome, WNT, biallelic variants, human, paralog, skeletal dysplasia
Author NameAffiliation
Zeynep Coban Akdemir
Zeynep Coban AkdemirSchool of Public Health
Bryan Paul WordsworthBotnar Research Centre
Tracy LesterOxford University Hospitals NHS Foundation Trust
Siddharth BankaThe University of Manchester
Siddharth BankaManchester Center for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust
Shalini N Jhangiani
Wendy K ChungColumbia University
Wendy K ChungColumbia University
Allyn McConkie-RosellDuke University Medical Center
Donna M Muzny
Donna M Muzny
Richard A Gibbs
Richard A Gibbs
Richard A Gibbs
Richard A Gibbs
Jennifer E Posey
Pengfei Liu
Pengfei Liu
James R Lupski
James R Lupski
James R Lupski
James R LupskiTexas Children's Hospital
James R Lupski
James R LupskiTexas Children's Hospital
James R Lupski
James R Lupski
Vernon R Sutton
Vernon R SuttonTexas Children's Hospital
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Datasets

Dataset
Description
Source Link
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Release 1.2