A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes, which is caused by heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) in the majority of patients. In a subset of ROR2-negative patients with BDB, clinically defined b...
Main Authors: | Lehmann, K, Seemann, P, Silan, F, Goecke, T, Irgang, S, Kjaer, K, Kjaergaard, S, Mahoney, M, Morlot, S, Reissner, C, Kerr, B, Wilkie, A, Mundlos, S |
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Format: | Journal article |
Language: | English |
Published: |
2007
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