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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Detaylı Bibliyografya
Yayımlandı:J Clin Res Pediatr Endocrinol
Asıl Yazarlar: Kışla Ekinci, Rabia Miray, Gürbüz, Fatih, Balcı, Sibel, Bişgin, Atıl, Taştan, Mehmet, Yüksel, Bilgin, Yılmaz, Mustafa
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Galenos Publishing 2019
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6398194/
https://ncbi.nlm.nih.gov/pubmed/30015621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0134
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