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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Veröffentlicht in:Cold Spring Harb Mol Case Stud
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2018
Schlagworte:
Rapid Communication
Online Zugang: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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