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

• Main Authors: Rabia Miray Kışla Ekinci (Author), Fatih Gürbüz (Author), Sibel Balcı (Author), Atıl Bişgin (Author), Mehmet Taştan (Author), Bilgin Yüksel (Author), Mustafa Yılmaz (Author)
• Format: Book
• Published: Galenos Yayincilik, 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...