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Clinical vignette
Published online: 2024-11-26
A novel homozygous variant in exon 4 of the GALNT3 gene causing hyperphosphataemic familial tumoural calcinosis in a family from China
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Abstract
Not required for Clinical Vignette.
Keywords: familial hyperphosphataemiahyperphosphataemic familial tumoural calcinosisfibroblast growth factor 23GALNT3
References
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- Boyce AM, Lee AE, Roszko KL, et al. Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management. Front Endocrinol (Lausanne). 2020; 11: 293.
- Sun L, Zhao L, Du L, et al. Identification of two novel mutations in the gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis. Bone Res. 2016; 4: 16038.
- Jost J, Bahans C, Courbebaisse M, et al. Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis? J Clin Endocrinol Metab. 2016; 101(7): 2810–2815.
