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单词 hemimegalencephaly
释义

hemimegalencephaly

English

Etymology

hemi- + megalencephaly

Noun

hemimegalencephaly (plural hemimegalencephalies)

  1. (pathology) megalencephaly that affects only one half of the brain
    • 2015 May 13, Chey Loveday et al., “Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth”, in Human Molecular Genetics, volume 24, DOI:10.1093/hmg/ddv182:
      Activating germline and somatic AKT3 mutations has also been described in a small number of individuals with atypical MPPH and hemimegalencephaly (MPPH2 [MIM 615937]) ( 10 ).
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