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A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India
Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disorder caused by variants in the GALNT3 (N-acetylgalactosaminyltransferase 3), FGF23 (Fibroblast Growth Factor-23) and αKL (α-Klotho) genes, which results in progressive calcification of soft tissues. We...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Intractable Rare Dis Res |
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| Prif Awduron: | , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2021
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7882081/ https://ncbi.nlm.nih.gov/pubmed/33614378 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.03084 |
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