A molecular and clinical study of Larsen syndrome caused by mutations in FLNB


Bicknell L. S. , Farrington-Rock C., Shafeghati Y., Rump P., ALANAY Y., Alembik Y., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.44, ss.89-98, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 44 Konu: 2
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1136/jmg.2006.043687
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.89-98

Özet

Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied.