Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.


Brachydactyly type B (BDB) is an autosomal dominant skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. Recently, heterozygous mutations of the orphan receptor tyrosine kinase (TK) ROR2, located within a distinct segment directly after the TK domain, have been shown to be responsible for BDB. We report four novel mutations… (More)


Figures and Tables

Sorry, we couldn't extract any figures or tables for this paper.