Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

@article{Afzal2000RecessiveRS,
  title={Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2},
  author={Ali R. Afzal and Anna A Rajab and Christiane D. Fenske and Michael Oldridge and Navaratnam Elanko and Eliana Ternes-Pereira and Beyhan T{\"u}ys{\"u}z and Victoria A. Murday and Michael A. Patton and Andrew O M Wilkie and Steve Jeffery},
  journal={Nature Genetics},
  year={2000},
  volume={25},
  pages={419-422}
}
The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance. We previously mapped the gene mutated in RRS to chromosome 9q22 (ref. 4), a region that overlaps the locus for autosomal dominant brachydactyly type B (refs 5,6). The recent identification of ROR2, encoding an orphan receptor tyrosine kinase, as the gene mutated in brachydactyly… CONTINUE READING
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