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brachydactyly type B

Sunday 26 August 2007

Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes.

Etiology

BDB is caused by

- heterozygous truncating mutations in the receptor tyrosine kinase-like orphan receptor 2 (ROR2) in the majority of patients
- point mutations in the bone morphogenetic protein antagonist NOGGIN (#17668388#)

References

- Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet. 2007 Aug;81(2):388-96. PMID: #17668388#