Mutation in WDR4 impairs tRNA m(7)G(46) methylation and causes a distinct form of microcephalic primordial dwarfism

BACKGROUND: Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic heterogeneity. RESULTS: Two presumably unrelated consanguineous families presented with an apparently novel form of primordial dwarfism in which severe...

Descripción completa

Detalles Bibliográficos
Autores principales: Shaheen, Ranad, Abdel-Salam, Ghada M H, Guy, Michael P., Alomar, Rana, Abdel-Hamid, Mohamed S., Afifi, Hanan H., Ismail, Samira I., Emam, Bayoumi A., Phizicky, Eric M., Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587777/
https://www.ncbi.nlm.nih.gov/pubmed/26416026
http://dx.doi.org/10.1186/s13059-015-0779-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587777/
https://www.ncbi.nlm.nih.gov/pubmed/26416026
http://dx.doi.org/10.1186/s13059-015-0779-x

Ejemplares similares