Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Cohen
M Michael
MM
Department of Oral & Maxillofacial Sciences, Dalhousie University, Halifax, Nova Scotia, Canada. remaclea@is.dal.ca
D000052:Acanthosis Nigricans / Q000235:genetics*; D019943:Amino Acid Substitution; D003398:Craniosynostoses / Q000145:classification* / Q000235:genetics*; D003545:Cysteine; D006801:Humans; D010641:Phenotype; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D014364:Tryptophan
D017468:Receptors, Fibroblast Growth Factor; D014364:Tryptophan; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2; D003545:Cysteine