Associated Papers
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
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
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
Schwarzer W et al.
Human Molecular Genetics, 2009
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Ben-Shachar S et al.
Clinical Genetics, 2009
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.
Stricker S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2006
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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