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GLI3

MIM.165240 7p13

Thursday 17 February 2005

Pathology

- germline mutations of GLI3 in

  • Greig cephalopolysyndactyly syndrome (GCPS) (MIM.175700)
  • Pallister-Hall syndrome (PHS) (MIM.146510)
  • acrocallosal syndrome (MIM.200990)
  • polydactyly
    • preaxial polydactyly type IV (MIM.174700)
    • postaxial polydactyly type A1/B (MIM.174200)

- somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. (18252217)

See also

- SHH-PTCH-GLI signaling pathway

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