Lipoid proteinosis in a six-year-old child
Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body a...
Kaydedildi:
| Asıl Yazarlar: | , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wolters Kluwer Medknow Publications
2012-01-01
|
| Seri Bilgileri: | Indian Dermatology Online Journal |
| Konular: | |
| Online Erişim: | http://www.idoj.in/article.asp?issn=2229-5178;year=2012;volume=3;issue=1;spage=25;epage=27;aulast=Nayak |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|