Hutchinson-Gilford Progeria Syndrome with G608G LMNA Mutation

Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, cranio...

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Detalles Bibliográficos
Autores principales: Kim, Hui Kwon, Lee, Jong Yoon, Bae, Eun Ju, Oh, Phil Soo, Park, Won Il, Lee, Dong Sung, Kim, Jong-Il, Lee, Hong Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230028/
https://www.ncbi.nlm.nih.gov/pubmed/22148005
http://dx.doi.org/10.3346/jkms.2011.26.12.1642

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