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Calcinosis cutis of the lower legs - hyperphosphatemic familial tumoral calcinosis in a patient with GALNT3 mutation.

作者信息

Ranzinger David, Schaefer Tobias, Schauer Franziska, Eyerich Kilian, Pilz Anna Caroline

机构信息

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.

Renal Division, Medical Center, University of Freiburg, Freiburg, Germany.

出版信息

J Dtsch Dermatol Ges. 2025 Sep;23(9):1144-1146. doi: 10.1111/ddg.15716. Epub 2025 May 2.

DOI:10.1111/ddg.15716
PMID:40317874
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12435102/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28f5/12435102/b71a5a59f95c/DDG-23-1144-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28f5/12435102/453820d3a9c7/DDG-23-1144-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28f5/12435102/c9834296a846/DDG-23-1144-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28f5/12435102/b71a5a59f95c/DDG-23-1144-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28f5/12435102/453820d3a9c7/DDG-23-1144-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28f5/12435102/c9834296a846/DDG-23-1144-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28f5/12435102/b71a5a59f95c/DDG-23-1144-g003.jpg

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本文引用的文献

1
Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management.高磷血症性肿瘤性钙化症：发病机制、临床表现及治疗挑战。
Front Endocrinol (Lausanne). 2020 May 8;11:293. doi: 10.3389/fendo.2020.00293. eCollection 2020.
2
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.一组家族性肿瘤性钙化/骨肥厚-高磷血症综合征患者的表型和基因型特征及治疗
J Bone Miner Res. 2016 Oct;31(10):1845-1854. doi: 10.1002/jbmr.2870. Epub 2016 Sep 20.
3
Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.
从一名因新的GALNT3基因突变导致严重肿瘤性钙化-高磷血症患者获取的人原代成骨细胞培养：体外矿化研究
Calcif Tissue Int. 2015 May;96(5):438-52. doi: 10.1007/s00223-015-9974-8. Epub 2015 Apr 23.
4
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.新型 GALNT3 突变引起的家族性肿瘤性钙化症的临床变异性。
Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337.
5
Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.
Genet Couns. 2008;19(2):183-92.
6
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.欧洲一个家族中由GALNT3基因突变引起的高磷血症性家族性肿瘤性钙化症。
J Hum Genet. 2006;51(5):487-490. doi: 10.1007/s10038-006-0377-6. Epub 2006 Mar 10.
7
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.假性常染色体显性肿瘤性钙化症中的一种新型GALNT3突变：该疾病为常染色体隐性遗传的证据
J Clin Endocrinol Metab. 2005 Apr;90(4):2420-3. doi: 10.1210/jc.2004-2302. Epub 2005 Feb 1.
8
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.编码参与O-连接糖基化的一种蛋白质的GALNT3基因发生突变会导致家族性肿瘤性钙化。
Nat Genet. 2004 Jun;36(6):579-81. doi: 10.1038/ng1358. Epub 2004 May 9.