Associated Papers
Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling.
Griffiths SC et al.
Elife, 2024
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
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.
Milhem RM et al.
Molecular Medicine (cambridge, Mass.), 2019
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Zhu N et al.
Genome Medicine, 2018
30029678 (PubMed )
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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
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Ben-Shachar S et al.
Clinical Genetics, 2009
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.
Ali BR et al.
Human Genetics, 2007
ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.
Chen Y et al.
Human Molecular Genetics, 2005
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
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
Afzal AR et al.
Nature Genetics, 2000
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