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遗传性骨病引起的生长迟缓 被引量:9

Growth retardation led by genetic bone disease
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作者 麻宏伟 姜俊
出处 《中国实用儿科杂志》 CSCD 北大核心 2005年第8期451-454,共4页 Chinese Journal of Practical Pediatrics
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  • 1李惠民,王明奎,董立新,曹桂民.假性软骨发育不全的临床及X线诊断(附6例报告及文献复习)[J].中华骨科杂志,1995,15(2):114-115. 被引量:3
  • 2赵颇 麻宏伟 等.软骨发育不全分子生物学研究进展[J].国外医学:儿科学分册,1997,24:78-81. 被引量:1
  • 3[1]Oehlmann R,Summerville GP,Yeh G,et al.Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19[J].Am J Hum Genet,1994,54(1):3-10. 被引量:1
  • 4[2]Briggs MD,Hoffman SM,King LM,et al.Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene[J].Nat Genet,1995,10(3):330-336. 被引量:1
  • 5[3]Murigagi Y,Mariman ECM,van Beersum SEC,et al.A mutation in the gene encoding the α 2 chain of the fibril-associated collagen Ⅸ,COL9A2,causes multiple epiphyseal dysplasia (EDM2)[J].Nat Genet,1996,12(1):103-105. 被引量:1
  • 6[4]Paassilta P,Lohiniva J,Annunen S,et al.COL9A3 :a third locus for multiple epiphyseal dysplasia[J].Am J Hum Genet,1999,64(4):1036-1044. 被引量:1
  • 7[5]Superti-Furga A,Neumann L,Riebel T,et al.Recessively inherited multiple epiphyseal dysplasia with normal stature,club foot,and double layered patella caused by a DTDST mutation[J].J Med Genet,1999,36(8):621-624. 被引量:1
  • 8[6]Sheffield EG.Double layered patella in multiple epiphyseal dyspla-sia ;a valuable clue in the diagnosis[J].J Pediatr Orthop,1998,18(1):123-128. 被引量:1
  • 9[7]Briggs MD,Mortier GR,Cole WG,et al.Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum[J].Am J Hum Genet,1998,62(2):311-319. 被引量:1
  • 10Whyte MP, Gottesman GS, Eddy MC, et al. X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.Medicine (Baltimore), 1999,78(1): 9-25. 被引量:1

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