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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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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Korean Academy of Medical Sciences
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3230028/ https://ncbi.nlm.nih.gov/pubmed/22148005 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2011.26.12.1642 |
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