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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169820/
https://www.ncbi.nlm.nih.gov/pubmed/30054298
http://dx.doi.org/10.1101/mcs.a003160

Ejemplares similares

Ejemplares similares