Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Highlights • Arthrogryposis multiplex congenita due to a recurrent de novo BICD2 mutation • Extends phenotypic spectrum of BICD2 disease • Not dissimilar to evolving phenotypes associated with mutations of DYNC1H1 , which encodes a BICD2 binding partner

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Bibliographic Details
Published inNeuromuscular disorders : NMD Vol. 26; no. 11; pp. 744 - 748
Main Authors Ravenscroft, Gianina, Di Donato, Nataliya, Hahn, Gabriele, Davis, Mark R, Craven, Paul D, Poke, Gemma, Neas, Katherine R, Neuhann, Teresa M, Dobyns, William B, Laing, Nigel G
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.11.2016
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