Article
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Journal of medical genetics - 1 Feb 2007
Bicknell Louise S, Farrington-Rock Claire, Shafeghati Yousef, Rump Patrick, Alanay Yasemin, Alembik Yves, Al-Madani Navid, Firth Helen, Karimi-Nejad Mohammad Hassan, Kim Chong Ae, Leask Kathryn, Maisenbacher Melissa, Moran Ellen, Pappas John G, Prontera Paolo, de Ravel Thomy, Fryns Jean-Pierre, Sweeney Elizabeth, Fryer Alan, Unger Sheila, Wilson L C, Lachman Ralph S, Rimoin David L, Cohn Daniel H, Krakow Deborah, Robertson Stephen P
Abstract excerpt
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...
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