Hutchinson-Gilford progeria syndrome: Oral and craniofacial phenotypes

OBJECTIVE: Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include...

詳細記述

保存先:
書誌詳細
主要な著者: Domingo, D.L., Trujillo, M.I., Council, S.E., Merideth, M.A., Gordon, L.B., Wu, T., Introne, W.J., Gahl, W.A., Hart, T.C.
フォーマット: Artigo
言語:Inglês
出版事項: 2009
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2664390/
https://ncbi.nlm.nih.gov/pubmed/19236595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1601-0825.2009.01521.x
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料