Etiology
germline mutations of NOGGIN in
- proximal symphalangism (SYM1)
- multiple-synostoses syndrome (SYNS1)
- autosomal dominant stapes ankylosis without symphalangism (broad thumbs and toes, hyperopia, and skeletal anomalies) (12089654)
- tarsal-carpal coalition syndrome (MIM.186570)
- brachydactyly type B2 (BDB) (MIM.113000) (17668388)
See also
osteosclerosis
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