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Paper Details

In-frame de novo mutation in <i>BICD2</i> in two patients with muscular atrophy and arthrogryposis.
Cold Spring Harb Mol Case Stud
13
2018
Asn546del, BICD2, BICD2 mutations, BICD2 protein, KIF5A, SMALED2, arthrogryposis, asparagine, autosomal dominant spinal muscular atrophy, lower-extremity predominant 2, c.1636_1638delAAT, cerebral atrophy, congenital contractures, congenital muscular atrophy, dysmorphic facial features, in-frame 3-bp deletion, muscle weakness, muscular atrophy, p, patients, seizures
Author NameAffiliation
Daniel C KoboldtInstitute for Genomic Medicine, Nationwide Children's Hospital
Daniel C KoboldtThe Ohio State University
Benjamin J KellyInstitute for Genomic Medicine, Nationwide Children's Hospital
Benjamin J KellyInstitute for Genomic Medicine, Nationwide Children's Hospital
Richard K WilsonInstitute for Genomic Medicine, Nationwide Children's Hospital
Richard K WilsonThe Ohio State University
Richard K WilsonInstitute for Genomic Medicine, Nationwide Children's Hospital
Richard K WilsonThe Ohio State University
Peter WhiteInstitute for Genomic Medicine, Nationwide Children's Hospital
Peter WhiteThe Ohio State University
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Release 1.2