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Article

Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.

Journal of endocrinological investigation - 1 Aug 2020

Mahjoubi F, Ghadir M, Samanian S, Heydari I, Honardoost M

Abstract excerpt

AIM: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare endocrine disorder caused by autosomal recessive variants in GALNT3, FGF23, and KL leading to progressive calcification of soft tissues and subsequent clinical effects. The aim of this was to study the cause of HFTC in an Iranian family. PATIENTS AND METHODS: Four generations of a family with HFTC were studied for understanding the genetic...

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PMID: 32125652
DOI: 10.1007/s40618-020-01203-x

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