Danh mục

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature

Số trang: 9      Loại file: pdf      Dung lượng: 656.33 KB      Lượt xem: 12      Lượt tải: 0    
Hoai.2512

Xem trước 2 trang đầu tiên của tài liệu này:

Thông tin tài liệu:

Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading to reduced levels of fibroblast growth factor 23 (FGF23) and subsequent clinical effects.
Nội dung trích xuất từ tài liệu:
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature

Tài liệu được xem nhiều: