A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia

Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes have been identified, these do not explain all cases. Here we...

Descripción completa

Detalles Bibliográficos
Autores principales: Lange, L., Pagnamenta, A. T., Lise, S., Clasper, S., Stewart, H., Akha, E. S., Quaghebeur, G., Knight, S. J. L., Keays, D. A., Taylor, J. C., Kini, U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2016
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006848/
https://www.ncbi.nlm.nih.gov/pubmed/26954065
http://dx.doi.org/10.1111/cge.12773

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006848/
https://www.ncbi.nlm.nih.gov/pubmed/26954065
http://dx.doi.org/10.1111/cge.12773

Ejemplares similares