Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.
Stevens
Cathy A
CA
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.
Roeder
Elizabeth R
ER
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
D012694:Serine; D003553:Cystine; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2