In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

We describe two unrelated patients, a 12-yr-old female and a 6-yr-old male, with congenital contractures and severe congenital muscular atrophy. Exome and genome sequencing of the probands and their unaffected parents revealed that they have the same de novo deletion in BICD2 (c.1636_1638delAAT). Th...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Koboldt, Daniel C., Kastury, Rama D., Waldrop, Megan A., Kelly, Benjamin J., Mosher, Theresa Mihalic, McLaughlin, Heather, Corsmeier, Don, Slaughter, Jonathan L., Flanigan, Kevin M., McBride, Kim L., Mehta, Lakshmi, Wilson, Richard K., White, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2018
Assuntos:
Rapid Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6169820/
https://ncbi.nlm.nih.gov/pubmed/30054298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003160
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