Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health
Reference10 articles.
1. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis;Cohen;Am J Med Genet,1993
2. Of worms and men: an evolutionary perspective on the fibroblast growth factor (FGF) and FGF receptor families;Coulier;J Mol Evol,1997
3. FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies;Flöttmann;Eur J Med Genet,2015
4. Analysis of mutations in fibroblast growth factor (FGF) and a pathogenic mutation in FGF receptor (FGFR) provides direct evidence for the symmetric two-end model for FGFR dimerization;Ibrahimi;Mol Cell Biol,2005
5. The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome – history repeating itself;Jay;Am J Med Genet A,2013
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