brachydactyly type B
Sunday 26 August 2007
Brachydactyly type B (BDB) is characterized by terminal deficiency of fingers and toes.
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#)
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#