A novel gene mutation in an infant with cranial dysmorphology and orbital-maxillary hypoplasia.
Ciuci
Paul M
PM
Department of Oral and Maxillofacial Surgery, University of Pittsburgh, University of Pittsburgh Medical Center, PA 15213, USA.
Costello
Bernard J
BJ
McPherson
Elizabeth W
EW
D019465:Craniofacial Abnormalities / Q000235:genetics*; D003394:Craniofacial Dysostosis / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005346:Fibroblast Growth Factors / Q000235:genetics; D018257:Helix-Loop-Helix Motifs / Q000235:genetics; D006801:Humans; D007223:Infant; D008437:Maxilla / Q000002:abnormalities*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D009915:Orbit / Q000002:abnormalities*; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2; 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; D005346:Fibroblast Growth Factors; C496353:FGFR2 protein, human; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3