Rett syndrome--search for genetic markers.
作者信息
Hanefeld F, Hanefeld U, Wilichowski E, Schmidtke J
出版信息
Am J Med Genet Suppl. 1986;1:377-82. doi: 10.1002/ajmg.1320250539.
PMID:3087199
Abstract
We have studied 8 girls with Rett syndrome, including 2 sisters. Their ages ranged from 1 to 26 years. The youngest patient presented with developmental delay and atypical infantile spasms. The oldest was the sister of a patient followed over a period of 13 years and showed the typical history and clinical picture of Rett syndrome. DNA from white blood cells of these patients was investigated for alterations in the OTC structural gene. As compared to normal control individuals no gross alterations occur in the OTC structural genes of patients with Rett's syndrome.
摘要
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