Associated Papers
The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.
Ma M et al.
Bmc Medical Genomics, 2026
41572294 (PubMed )
Supplement: 12920_2026_2312_MOESM4_ESM.docx
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
40596606 (PubMed )
Supplement: 41598_2025_7570_MOESM2_ESM.xlsx › sheet1
Whole-Genome DNA Methylation Profiling of Intrahepatic Cholangiocarcinoma Reveals Prognostic Subtypes with Distinct Biological Drivers.
Liao H et al.
Cancer Research, 2024
38471085 (PubMed )
Supplement: can-23-3298_supplementary_tables_suppst1-11.xlsx › Supplementary_Table_S8
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
35948633 (PubMed )
Supplement: 41586_2022_5066_MOESM16_ESM.xlsx › ED_Fig._2a
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
Barroso E et al.
American Journal of Medical Genetics. Part A, 2011
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Wilkie AO et al.
Pediatrics, 2010
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2006
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
de Ravel TJ et al.
European Journal of Human Genetics : Ejhg, 2005
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005
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