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...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7485795/
https://ncbi.nlm.nih.gov/pubmed/32939435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa104
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