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新生儿Goldenhar综合征(眼、耳、脊柱综合征)一例 被引量:2

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出处 《中华围产医学杂志》 CAS 2006年第5期324-324,共1页 Chinese Journal of Perinatal Medicine
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参考文献3

  • 1Taeusch HW,Ballard RA.Avery's Diseases of the Newborn,Seventh Edition,Science Press,2001.225-226.
  • 2Pinheiro AL,Araujo LC,Oliveira SB,et al.Goldenhar's syndrome-case report.Braz Dent J,2003,14:67-70.
  • 3Hattori Y,Tanaka M,Matsumoto T,et al.Prenatal diagnosis of hemifacial microsomia by magnetic resonance imaging.J Perinat Med,2005,33:69-71.

同被引文献20

  • 1陈春辉.Goldenhar综合征2例[J].罕少疾病杂志,2006,13(1):61-61. 被引量:1
  • 2黄雪霜,张建湘,黄世凡.Goldenhar综合征一家系五例[J].中华医学遗传学杂志,2006,23(4):487-488. 被引量:1
  • 3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
  • 4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
  • 5WANG 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.
  • 6JACOBSSON 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.
  • 7JOHNSTON 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.
  • 8KOHLHASE 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.
  • 9KOSAKI 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.
  • 10KEEGAN 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.

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