A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis

A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis

AimHyperphosphatemic Familial Tumoral Calcinosis (HFTC) is an autosomal recessive disorder. This study investigates the etiology of HFTC in offspring from consanguineous parents. Methods: Clinical assessment, imaging, and direct sequencing were utilized to elucidate the condition. Previously reporte...

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Bibliographic Details
Main Authors: Aijia Wu, Bangxiang Yang, Xijie Yu
Format: Article
Language:English
Published: Elsevier 2024-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
HFTC
GALNT3
GALNT3 mutation
Ectopic calcification
Metabolic bone disease
Phosphate
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924000818

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http://www.sciencedirect.com/science/article/pii/S2214426924000818

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