GLI3

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