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MIM.602991 17q22

Friday 12 December 2003


- 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


- 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