Associated Papers
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
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
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
The Ror receptor tyrosine kinase family.
Forrester WC
Cellular and Molecular Life Sciences : Cmls, 2002
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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