Online first
Clinical vignette
Published online: 2024-11-26

open access

Page views 16
Article views/downloads 6
Get Citation

Connect on Social Media

Connect on Social Media

A novel homozygous variant in exon 4 of the GALNT3 gene causing hyperphosphataemic familial tumoural calcinosis in a family from China

Yi Zhang12, Hongda Li23, Bo Gao12, Gang Zhou13

Abstract

Not required for Clinical Vignette.

Article available in PDF format

View PDF Download PDF file

References

  1. Olsen KM, Chew FS. Tumoral calcinosis: pearls, polemics, and alternative possibilities. Radiographics. 2006; 26(3): 871–885.
  2. Smack D, Norton SA, Fitzpatrick JE. Proposal for a pathogenesis-based classification of tumoral calcinosis. Int J Dermatol. 1996; 35(4): 265–271.
  3. Boyce AM, Lee AE, Roszko KL, et al. Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management. Front Endocrinol (Lausanne). 2020; 11: 293.
  4. 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.
  5. 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.