Clinical and molecular diagnosis should be consistent.
Gripp
Karen W
KW
Zackai
Elaine H
EH
Cohen
M Michael
MM
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
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