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

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

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...

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Bibliographic Details
Main Authors: Rabia Miray Kışla Ekinci, Fatih Gürbüz, Sibel Balcı, Atıl Bişgin, Mehmet Taştan, Bilgin Yüksel, Mustafa Yılmaz
Format: Article
Language:English
Published: Galenos Yayincilik 2019-03-01
Series:JCRPE
Subjects:
GALNT3
hyperphosphatemia
tumoral calcinosis
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/hyperphosphatemic-familial-tumoral-calcinosis-in-t/19392

Internet

http://www.jcrpe.org/archives/archive-detail/article-preview/hyperphosphatemic-familial-tumoral-calcinosis-in-t/19392

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