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Quoted phrase not found in phrase index: "Tumoral calcinosis, hyperphosphatemic, familial, 2"
Page 1
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Curr Osteoporos Rep. 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3.
Curr Osteoporos Rep. 2017.
PMID: 28585220
Review.
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial cal …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellu …
Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.
Chakhtoura M, Ramnitz MS, Khoury N, Nemer G, Shabb N, Abchee A, Berberi A, Hourani M, Collins M, Ichikawa S, El Hajj Fuleihan G.
Chakhtoura M, et al.
Osteoporos Int. 2018 Sep;29(9):1987-2009. doi: 10.1007/s00198-018-4574-x. Epub 2018 Jun 20.
Osteoporos Int. 2018.
PMID: 29923062
Review.
While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense mutation), they presented with variable severity and age of disease onset (at 4 years in patient 1 and at 23 years in patient 2). A review of …
While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense mutation …
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