title: Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.
authors.affiliation: Department of Pediatrics, Chattanooga Unit of the University of Tennessee College of Medicine, Chattanooga, Tennessee Division of Genetics and Metabolic Disorders, Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA.
authors.forename: Cathy A
authors.initials: CA
authors.lastname: Stevens
authors.forename: Elizabeth R
authors.initials: ER
authors.lastname: Roeder
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D003553:Cystine / Q000235:genetics; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012694:Serine / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D012694:Serine; D003553:Cystine; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2