Die familiäre Tumorkalzinose sind eine Gruppe autosomal rezessiver Erkrankungen, die zu Verkalkungen der Weichteilgewebe führen.
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Mikati MA et al. (1981) The syndrome of hyperostosis and hyperphosphatemia. ![]() |
2. |
Altman HS et al. (1971) Cortical hyperostosis with hyperphosphatemia. ![]() |
3. |
James AE et al. (1969) Roentgen findings in pseudoxanthoma elasticum (PXE). ![]() |
4. |
Melhem RE et al. (1970) Cortical hyperostosis with hyperphosphatemia: a new syndrome? ![]() |
5. |
Najjar SS et al. (1968) Tumoral calcinosis and pseudoxanthoma elasticum. ![]() |
6. |
McClatchie S et al. (1969) Tumoral calcinosis--an unrecognized disease. ![]() |
7. |
None () [A familial form of lipocalcigranulomatosis with arterial calcinosis]. ![]() |
8. |
None (1966) Tumoural calcinosis. ![]() |
9. |
None (1966) Calcifying collagenolysis (tumoural calcinosis). ![]() |
10. |
Harkess JW et al. (1967) Tumoral calcinosis. A report of six cases. ![]() |
11. |
Mitnick PD et al. (1980) Calcium and phosphate metabolism in tumoral calcinosis. ![]() |
12. |
Lyles KW et al. (1985) Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. ![]() |
13. |
Clarke E et al. (1984) Tumoral calcinosis, diaphysitis, and hyperphosphatemia. ![]() |
14. |
Zerwekh JE et al. (1980) Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1 alpha,25-dihydroxycholecalciferol synthesis. ![]() |
15. |
Prince MJ et al. (1982) Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations. ![]() |
16. |
Chausmer A et al. (1982) Phosphate depletion therapy in two ectopic calcification syndromes. ![]() |
17. |
Balachandran S et al. (1980) Tumoral calcinosis: scintigraphic studies of an affected family. ![]() |
18. |
None (1997) Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. ![]() |
19. |
Adams WM et al. (1999) Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. ![]() |
20. |
BARTON DL et al. (1961) Tumoral calcinosis. Report of three cases and review of the literature. ![]() |
21. |
ALTMAN HS et al. (1961) Chronic polyostotic periostitis of unknown etiology. ![]() |
22. |
Goldbloom RB et al. (1966) Idiopathic periosteal hyperostosis with dysproteinemia. A new clinical entity. ![]() |
23. |
Davies M et al. (1987) Tumoral calcinosis: clinical and metabolic response to phosphorus deprivation. ![]() |
24. |
Steinherz R et al. (1985) Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis. ![]() |
25. |
Slavin RE et al. (1993) Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. ![]() |
26. |
MCPHAUL JJ et al. (1961) Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina. ![]() |
27. |
Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. ![]() |
28. |
Frishberg Y et al. (2005) Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. ![]() |
29. |
Ichikawa S et al. (2005) A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. ![]() |
30. |
Specktor P et al. (2006) Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. ![]() |
31. |
Ichikawa S et al. (2006) Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. ![]() |
32. |
Ichikawa S et al. (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. ![]() |
33. |
Ichikawa S et al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. ![]() |
34. |
Benet-Pagès A et al. (2005) An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. ![]() |
35. |
Chefetz I et al. (2005) A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. ![]() |
36. |
Abbud Y et al. (1979) Scintiscans of two siblings with tumoral calcinosis. ![]() |
37. |
Pursley TV et al. (1979) Cutaneous manifestations of tumoral calcinosis. ![]() |
38. |
None (1978) Tumoral calcinosis. A clinical and pathological study of eleven unreported cases in Turkey. ![]() |
39. |
Wilson MP et al. (1989) Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis. ![]() |
40. |
Witcher SL et al. (1989) Tumoral calcinosis with unusual dental radiographic findings. ![]() |
41. |
Gregosiewicz A et al. (1989) Tumoral calcinosis: successful medical treatment. A case report. ![]() |
42. |
Talab YA et al. () Hyperostosis with hyperphosphatemia: a case report and review of the literature. ![]() |
43. |
Mozaffarian G et al. (1972) Treatment of tumoral calcinosis with phosphorus deprivation. ![]() |
44. |
OMIM.ORG article Omim 211900![]() |