Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome

Alopecia, neurologic defects, and endocrinopathy (ANE) syndrome is a rare ribosomopathy known to be caused by a p.(Leu351Pro) variant in the essential, conserved, nucleolar large ribosomal subunit (60S) assembly factor RBM28. We report the second family of ANE syndrome to date and a female pediatric...

Descripción completa

Detalles Bibliográficos
Autores principales: Bryant, Carson J., Lorea, Cláudia F., de Almeida, Hiram Larangeira, Weinert, Letícia, Vedolin, Leonardo, Pinto e Vairo, Filippo, Baserga, Susan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2021
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8126767/
https://www.ncbi.nlm.nih.gov/pubmed/33941690
http://dx.doi.org/10.1073/pnas.2017777118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8126767/
https://www.ncbi.nlm.nih.gov/pubmed/33941690
http://dx.doi.org/10.1073/pnas.2017777118

Ejemplares similares