Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
Abstract
Inherited limb malformations provide a valuable resource for the identification of genes involved in limb development1,2. Brachydactyly type B (BDB), an autosomal dominant disorder, is the most severe of the brachydactylies3 and characterized by terminal deficiency of the fingers and toes. In the typical form of BDB, the thumbs and big toes are spared, sometimes with broadening or partial duplication4,5,6,7,8. The BDB1 locus was previously...
Paper Details
Title
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
Published Date
Mar 1, 2000
Journal
Volume
24
Issue
3
Pages
275 - 278
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