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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2009
Konular:
Article
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller