GLI3
MIM.165240 7p13
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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