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CRASH综合征一例

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摘要 先天性脑积水是婴幼儿最常见的神经外科疾病.CRASH综合征是目前唯一明确的单基因所致的脑积水,表现为X连锁遗传,基因定位于X染色体长臂2区8带的细胞粘附分子L1基因(cell adhsion molecule L1,L1CAM)[1].本文报道1例CRASH综合征,并结合文献复习该疾病的临床表现、遗传学基础及诊疗措施,提高对该疾病的认识.
出处 《中华神经外科杂志》 CSCD 北大核心 2014年第11期1186-1187,共2页 Chinese Journal of Neurosurgery
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参考文献7

  • 1Fransen E,Lemmon V,Van Camp G,et al.CRASH syndrome:clinical spectrum of corpus callosum hypoplasia,retardation,adducted thumbs,spastic paraparesis and hydrocephalus due to mutations in one single gene,L1[J].Eur J Hum Genet,1995,3:273-284.
  • 2Adle-Biassette H,Saugier-Veber P,Fallet-Bianco C,et al.Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus:evidence for closely related clinical entities of unknown molecular bases[J].Acta Neuropathol,2013,126:427-442.
  • 3Jouet M,Rosenthal A,Armstrong G,et al.X-linked spastic paraplegia (SPG1),MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene[J].Nat Genet,1994,7:402-407.
  • 4Vos YJ,Hofstra RM.An updated and upgraded L1CAM mutation database[J].Hum Mutat,2010,31:1102-1109.
  • 5Fernandez RM,Nunez-Torres R,Garcia-Diaz L,et al.Association of X-linked hydrocephalus and Hirschsprung disease:report of a new patient with a mutation in the L1 CAM gene[J].Am J Med Genet A,2012,158:816-820.
  • 6Schafer MK,Altevogt P.L1CAM malfunction in the nervous system and human carcinomas[J].Cell Mol Life Sci,2010,67:2425-2437.
  • 7Yamasaki M,Nonaka M,Suzumori N,et al.Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus)[J].J Neurosurg Pediatr,2011,8:411-416.

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