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Brachydactyly, type A2

*Gene map locus 4q23-q24
BDA2
Brachymesophalangy II
Mohr-Wriedt type brachydactyly
[Clinical features: shortening of the middle phalanges of the index finger and the second toe]
[Inheritance: autosomal dominant]

 
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
 
Journal of Medical Genetics
Proceedings of the National Academy of Sciences of the United States of America
 


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Edited by Aldo Campana, March 14, 2010