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Goldenhar综合征一家系五例 被引量:1

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出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2006年第4期487-488,共2页 Chinese Journal of Medical Genetics
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参考文献8

  • 1Araneta MRG,Moore CI,Onley RS,et al.Goldenhar syndrome among infants born in military hospital to Gulf war veterans.Teratology,1997,56:244-251.
  • 2Summitt RL.Familial Goldenhar syndrome.Birth Defects Orig Art Se,1969:106-109.
  • 3Regenbogen L,Godel V,Goya V,et al.Further evidence for an autosomal dominant form of oculo-auriculo-vertebral dysplasia.Clin Genet,1982,21:161-167.
  • 4Beck AE,Hudgins L,Hoyme HE.Autosomal dominant microtia and ocular coloboma:new syndrome or an extension of the oculo-auriculo-vertebral spectrum? Am J Med Genet A,2005,134:359-362.
  • 5Rollnick BR,Kaye CI.Hemifacial microsomia and variants:pedigree data.Am J Med Genet,1983,15:233-253.
  • 6Kaye CI,Martin AO,Rollnick BR,et al.Oculo-auruculo-vertebral anomaly:segregation analysis.Am J Med Genet,1992,43:913-917.
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  • 8Musarella MA,Young ID.A patient with median cleft face anomaly and bitaleral Goldenhar anomaly.Am J Med Genet Suppl,1986,2:135-141.

同被引文献15

  • 1谢雨芳,田鸾英,孙彦香,黄远湖,田荪,易烈致.新生儿Goldenhar综合征(眼、耳、脊柱综合征)一例[J].中华围产医学杂志,2006,9(5):324-324. 被引量:2
  • 2黄雪霜,张建湘.Goldenhar综合征的研究现状[J].中国优生与遗传杂志,2006,14(11):123-124. 被引量:8
  • 3黄雪霜,姜海鸥,黄世凡,黄雪梅,饶利兵,谭灿,肖玲,张建湘.Goldenhar综合征家系的临床表型和遗传学分析[J].中国优生与遗传杂志,2006,14(12):112-114. 被引量:4
  • 4WANG R, MARTINEZ FRIAS M L, GRAHAM J M Jr. Infants of diabetic mothers are at increased risk for the oculo - auriculo - vertebral sequence : A case - based and case - control approach [ J ]. J Pediatr, 2002, 141(5) : 611 -617.
  • 5JACOBSSON C, GRANSTROM G. Clinical appearance of spontaneous and induced first and second branchial arch syndromes [ J ]. Scand J Plast Reconstr Surg Hand Surg, 1997, 31 (2) : 125 - 136.
  • 6JOHNSTON M C, BRONSKY P T. Prenatal craniofaeial development: New insights on normal and abnormal mechanisms[J]. Crit Rev Oral Biol Med, 1995, 6(4) : 368 -422.
  • 7KOHLHASE J, TASCHNER P E, BURFEIND P, et al. Molecular analysis of SALL1 mutations in Townes -Brocks syndrome [ J ]. Am J Hum Genet, 1999, 64(2) : 435 -445.
  • 8KOSAKI R, FUJIMARU R, SAMEJIMA H, et al. Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome [ J]. Am J Med Genet Part A, 2007, 143A(10) : 1087 -1090.
  • 9KEEGAN C E, MULLIKEN J B, WU B L, et al. Townes - Brocks syndrome versus expanded spectrum hemifacial microsomia : review of eight patients and further evidence of a " hot spot" for mutation in the SALL1 gene[J]. Genet Med, 2001, 3(4): 310 -313.
  • 10SUP H, YU J S, CHEN J Y, et al. Mutations and new polymorphic changes in the TCOF! gene of patients with oculo - auriculo - vertebral spectrum and Treacher - Collins syndrome [ J ]. Clin Dysmorphol, 2007, 16(4) : 261 -267.

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