title: Clinical and molecular diagnosis should be consistent.
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: M Michael
authors.initials: MM
authors.lastname: Cohen
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis; D003398:Craniosynostoses / Q000175:diagnosis*; D006801:Humans; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D009687:Nuclear Proteins; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D051879:Twist-Related Protein 1
chemical_list: D009687:Nuclear Proteins; D017468:Receptors, Fibroblast Growth Factor; C103173:TWIST1 protein, human; D014157:Transcription Factors; D051879:Twist-Related Protein 1; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3