FGF4, fibroblast growth factor 4, 2249

N. diseases: 86; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.020 GeneticVariation disease BEFREE Clinical comparison of our patient with those previously reported with overlapping 11q duplications allows us to define the minimal duplicated region associated with craniosynostosis and strongly supports the hypothesis that the constitutional increased dosage of the FGF3 and FGF4 genes is a risk factor for craniosynostosis in humans. 24120895 2014
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.020 GeneticVariation disease BEFREE An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. 17632770 2007