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

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...

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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BMJ Group 2007
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Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598053/
https://ncbi.nlm.nih.gov/pubmed/16801345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.043687
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