Pathology
germ-line mutations
- in Pfeiffer syndrome (MIM.101600)
- in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
- in osteoglophonic dysplasia
- isolated trigonocephaly (MIM.190440)
- isolated trigonocephaly (MIM.190440)
fusion proteins in cellular proliferations
See also
FGFRs
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