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小头畸形21例分析

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出处 《中国误诊学杂志》 CAS 2010年第22期5475-5475,共1页 Chinese Journal of Misdiagnostics
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  • 2[2]Straussberg R, Kornreich L, Harel L, et al. Autosomal recessive microcephaly with neonatal myoclonic seizures:clinical and MRI findings. Am J Med Genet, 1998, 80(2):136
  • 3[3]Megarbane A, Choueiri R, Bleik J, et al. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, sever psychomotor retardation, and cerebral malformations:a second family with micro syndrome or a new syndrome? J Med Genet, 1999, 36(8):637
  • 4[4]Xiao KZ, Zhang ZY, Su YM, et al. Central nervous system congenital malformations, especially neural tube defects in 29 provinces, metropolitan cities and autonomous regions of China. Int J Epidemiol, 1990, 19(4):978
  • 5[5]International Clearing house for Birth Defects Systym. Annual report 1998 with data for 1996, Roma, 1998.43
  • 6[6]Ellis IH, Yale C, Thomas R, et al. Three sibs with microcephaly, congenital heart disease, lung segmentation defects and unilateral absent kidney:a new recessive multiple congenital anomaly (MCA) syndrome? Clin Dysmorphol, 1996, 5(1):129
  • 7[7]Tutuncuoglu S, Ozkinay F, Genel F, et al. A case report:corpus callosum dysgenesis, microcephaly infantile spasm, cleft lip and palate exophthalmos and psychomotor retardation. Clin Genet, 1996, 49(4):220
  • 8[8]Jackson P, McHale DP, Campbell DA, et al. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet, 1998, 63(2):541
  • 9[9]Mowat DR, Groaker GDH, Cass DT, et al. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features:delineation of a new syndrome and identification of a locus at chromosome 2q22~23. J Med Genet, 1998, 35(8):617

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