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Novel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome

Doh YJ, Kim HK, Jung ED, Choi SH, Kim JG, Kim BW, Lee IK

Hutchinson-Gilford progeria syndrome (HGPS) and Werner's syndrome are representative types of progeroid syndrome. LMNA (Lamin A/C) gene mutation with atypical Werner's syndrome have recently been reported. Atypical Werner's syndrome with...
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A case of atypical Werner syndrome without WRN gene mutations

Choi JH, Lee EA, Kim YS, Won JC, Park CY, Ki CS

  • KMID: 2258119
  • Korean J Med.
  • 2009 Aug;77(Suppl 1):S134-S138.
Werner syndrome is a rare autosomal recessive, hereditary disease that demonstrates progeroid features and has characteristic WRN gene mutations. Atypical Werner syndrome refers to a small subset of individuals who...
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A case of Werner Syndrome Complicated by Bone Metastasis of Rhabdomyosarcoma

Song JH, Sun DS, Kim H, Lee YH, Hong YH, Lee DH

  • KMID: 2244897
  • J Genet Med.
  • 2009 Jun;6(1):91-94.
Werner syndrome (WRN), or adult progeria, is a very rare, autosomal recessive disorder characterized by the appearance of accelerated aging, including cataracts, gray hair, skin atrophy, and atherosclerosis. This syndrome...
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Osteosarcoma: Biologic Markers in Its Treatment

Kim HS

Osteosarcoma is a primary malignant bone tumor that accounts for 5% of childhood cancers. Despite the use of chemotherapy, long-term survival has reached a plateau, and this figure has not...
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