Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?

Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in...

Descripción completa

Detalles Bibliográficos
Autores principales: Karunanithi, Zarmiga, Vestergaard, Else Marie, Lauridsen, Mette H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5746628/
https://www.ncbi.nlm.nih.gov/pubmed/29317992
http://dx.doi.org/10.4330/wjc.v9.i12.848

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5746628/
https://www.ncbi.nlm.nih.gov/pubmed/29317992
http://dx.doi.org/10.4330/wjc.v9.i12.848

Ejemplares similares