One gene, two phenotypes: ROR2 mutations
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Ali R. Afzal; Steve Jeffery
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Article
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2003
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John Wiley and Sons
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English
⚖ 212 KB
Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. The gene encoding receptor orphan receptor tyrosine kinase 2 (ROR2) is located on chromosome 9