Associated Papers
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2C
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
Heuertz S et al.
European Journal of Human Genetics : Ejhg, 2006
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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