Associated Papers
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR et al.
Human Mutation, 2022
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.
Malik S et al.
American Journal of Medical Genetics. Part A, 2022
Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.
Gui B et al.
Frontiers in Cell and Developmental Biology, 2021
Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.
Yang K et al.
Journal of Clinical Laboratory Analysis, 2020
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
Aglan M et al.
American Journal of Medical Genetics. Part A, 2015
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.
Tamhankar PM et al.
Journal of Clinical Research in Pediatric Endocrinology, 2014
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Ben-Shachar S et al.
Clinical Genetics, 2009
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
Afzal AR et al.
Human Mutation, 2003
Expression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans.
Yoda A et al.
Journal of Receptor and Signal Transduction Research, 2003
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
Schwabe GC et al.
American Journal of Human Genetics, 2000
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
van Bokhoven H et al.
Nature Genetics, 2000
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