| 概要 |
Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by the craniofacial abnormalities, multiple congenital dislocations of the large joints, and nontapering fingers. Recently, Larsen syndrome was shown to be caused by mutations in FLNB, encoding the cytoskeletal protein filamin B.
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| 著者 |
Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP |
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| 著者 |
Becker R, Wegner RD, Kunze J, Runkel S, Vogel M, Entezami M |
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