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

Louise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Al-Madani, Helen Firth, Mohammad Hassan Karimi-Nejad, Chong Ae Kim, Kathryn Leask, Melissa Maisenbacher, Ellen Moran, John G Pappas, Paolo Prontera, Thomy de Ravel, Jean-Pierre Fryns, Elizabeth Sweeney, Alan Fryer, Sheila UngerL C Wilson, Ralph S Lachman, David L Rimoin, Daniel H Cohn, Deborah Krakow, Stephen P Robertson

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)89-98
Number of pages10
JournalJournal of Medical Genetics
Volume44
Issue number2
DOIs
Publication statusPublished - 2007

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