Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey

• Hlavní autoři: Rabia Miray Kışla Ekinci (Autor), Fatih Gürbüz (Autor), Sibel Balcı (Autor), Atıl Bişgin (Autor), Mehmet Taştan (Autor), Bilgin Yüksel (Autor), Mustafa Yılmaz (Autor)
• Médium: Kniha
• Vydáno: Galenos Yayincilik, 2019-03-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3) genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC present with hyperphosphatemia and tumor...