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Rothmund-Thomson综合征伴RECQL4基因突变1例 被引量:3

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摘要 Rothmund-Thomson综合征(罗-汤综合征)是一种较少见的常染色体隐性遗传疾病[1],目前基因表型之间的关系尚不明确,有待进一步研究。该病主要表现为皮肤异色症样改变、光敏感、白内障伴角膜变性、性腺发育不全及性功能低下、骨骼形成障碍、小头畸形、智力正常或低下等表现。现报告1例如下。
出处 《中国儿童保健杂志》 CAS 2019年第1期113-114,共2页 Chinese Journal of Child Health Care
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  • 1Lindor NM, Devries EM, Michels VV, et al. Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism[J].Clin Genet, 1996, 49(3): 124-129.
  • 2Cumin I, Cohen JY, David A, et al. Rothmound-Thomson syndrome and ostesosarcoma[J]. Med Pediatr Oncol, 1996, 26(6):414-416.
  • 3Macris MA, Krejci L, Bussen W, et al. Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. DNA Repair (Amst), 2006, 5(2): 172-180.
  • 4Wang LL, Levy ML, Lewis RA, et al. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet, 2001, 102( 1 ): 11-17.
  • 5Siitonen HA, Kopra O, Kaariainen H, et al. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet, 2003, 12(21 ): 2837-2844.
  • 6Van Maldergem L, Siitonen HA, Jalkh N, et al. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQLA gene. J Med Genet, 2006, 43(2): 148-152.
  • 7Kellermayer R, Siitonen HA, Hadzsiev K, et al. A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. Arch Dermatol, 2005, 141 ( 5 ): 617-620.
  • 8Petkovic M, Dietschy T, Freire R, et al. Tbe human Rotbmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear loci that coincide with proteins involved in the maintenance of genome stability. J Cell Sci, 2005, 118 (Pt 18): 4261-4269.
  • 9Sznajer Y, Siitonen HA, Roversi G, et at. Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. Eur J Pediatr, 2008, 167(2): 175-181.
  • 10Penagos H,Jaen M,Sancho MT,et al.Kindler syndrome in native Americans from Panama:report of 26 cases[J].Arch Dermatol,2004,140(8):939-944.

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