Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant

BACKGROUND: Pathogenic variants in lamin A/C (LMNA) cause a variety of progeroid disorders including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome. Six families with 11 patients harboring a pathogenic heterozygous LMNA c.1045C>T; p.R349W variant h...

Descripción completa

Detalles Bibliográficos
Autores principales: Hussain, Iram, Jin, Ruilin Raelene, Baum, Howard B A, Greenfield, Jerry R, Devery, Sophie, Xing, Chao, Hegele, Robert A, Carranza-Leon, Barbara G, Linton, Macrae F, Vuitch, Frank, Wu, Kathy H C, Precioso, Débora Rossi, Oshima, Junko, Agarwal, Anil K, Garg, Abhimanyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7485795/
https://www.ncbi.nlm.nih.gov/pubmed/32939435
http://dx.doi.org/10.1210/jendso/bvaa104

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7485795/
https://www.ncbi.nlm.nih.gov/pubmed/32939435
http://dx.doi.org/10.1210/jendso/bvaa104

Ejemplares similares