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FLNB

MIM.603381 3p14.3

Pathology

- FLNB germline mutations in

  • spondylocarpotarsal syndrome (SCT) (MIM.272460)
  • autosomal dominant Larsen syndrome (MIM.150250)
  • atelosteogenesis type I (AO1) (MIM.108720)
  • atelosteogenesis type III (AO3) (MIM.108721)