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...
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: | |
Online Access: |
http://www.jcrpe.org/archives/archive-detail/article-preview/hyperphosphatemic-familial-tumoral-calcinosis-in-t/19392
|
Similar Items
-
Tumoral calcinosis with vitamin D deficiency
by: Kannan Subramanian, et al.
Published: (2008-01-01) -
Hyperphosphatemic Familial Tumoral Calcinosis With Galnt3 Mutation: Transient Response to Anti‐Interleukin‐1 Treatments
by: Astrid Dauchez, et al.
Published: (2019-07-01) -
Differential response of idiopathic sporadic tumoral calcinosis to bisphosphonates
by: Karthik Balachandran, et al.
Published: (2014-01-01) -
Laxative related primary hyperphosphatemic tumoral calcinosis identified by bone scintigraphy
by: Marcus Asokendaran, et al.
Published: (2016-01-01) -
Bone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation
by: J. Daniel Freedman, et al.
Published: (2021-07-01)