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Dergiler / Türk Pediatri Arşivi / 2012 / Cilt: 47 - Sayı: 4

Şiddetli seyirli Schimke immün-kemik displazili olgu sunumu

A severily affected case with Schimke immuno-osseous dysplasia

Müferet ERGÜVEN
Yasemin ALANAY
Yüksel YILMAZ
Cengiz CANDAN
Fatma CANDAN
Pınar TURHAN
Sayfa
319–321
Yayın Tarihi
2022-11-05
DOI
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Bu Makaleye Atıf Yap

ERGÜVEN, M., ALANAY, Y., YILMAZ, Y., CANDAN, C., CANDAN, F., TURHAN, P. (2022). Şiddetli seyirli Schimke immün-kemik displazili olgu sunumu. Türk Pediatri Arşivi, Cilt: 47 - Sayı: 4, 319–321. https://ajindex.com/articles/641402

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Kaynakça (13)

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  2. Saraiva JM, Dinis A, Resende C, et al. Schimke immuno-osseous dysplasia: case report and review of 25 patients. J Med Genet 1999; 36: 786-9
  3. Boerkoel CF, O'Neill S, André JL, et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000; 159: 1-7
  4. Clewing JM, Fryssira H, Goodman D, et al. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat 2007; 28: 273-83
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  6. Dekel B, Metsuyanim S, Goldstein N, et al. Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype. Pediatr Res 2008; 63: 398-403
  7. Clewing JM, Antalfy BC, Lücke T, et al. Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet 2007; 44: 122-30
  8. Hunter KB, Lücke T, Spranger J, et al. Schimke immunoosseous dysplasia: defining skeletal features. Eur J Pediatr 2010; 169: 801-11
  9. Zivicnjak M, Franke D, Zenker M, et al. SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. Pediatr Res 2009; 65: 564-8
  10. Lücke T, Marwedel KM, Kanzelmeyer NK, et al. Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. Pediatr Nephrol 2004; 19: 672-5
  11. Kilic SS, Donmez O, Sloan EA, et al. Association of migraine-like headaches with Schimke immuno-osseous dysplasia. Am J Med Genet 2005; 135: 206-10
  12. Baradaran-Heravi A, Cho K, Tolhuis B, et al. Schimke immuno-osseous dysplasia: a disorder of interacting genetic and environmental influences on gene expression. Hum Mol Genet 2012; 21: 2572-87
  13. Morimoto M, Yu Z, Stenzel P, et al. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immunoosseous dysplasia? Orphanet J Rare Dis 2012; 7(1): 70.