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Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

J M Hertz, B Sivertsen, A Silahtaroglu, M Bugge, V Kalscheuer, A Weber, J Wirth, H-H Ropers, N Tommerup, Z Tümer

5 Citations (Scopus)
Original languageEnglish
JournalJournal of Medical Genetics
Volume41
Issue number3
Pages (from-to)e25
ISSN0022-2593
DOIs
Publication statusPublished - Mar 2004
Externally publishedYes

Keywords

  • Adult
  • Age of Onset
  • Cerebellar Ataxia/genetics
  • Child
  • Child, Preschool
  • Chromosome Breakage/genetics
  • Chromosomes, Human, Pair 20/genetics
  • Chromosomes, Human, Pair 8/genetics
  • Disease Progression
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male
  • Middle Aged
  • Pedigree
  • Physical Chromosome Mapping
  • Translocation, Genetic/genetics

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