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Abbreviation : PS
Long Form : Pfeiffer syndrome
No. Year Title Co-occurring Abbreviation
2018 Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis. FGFR2
2017 Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations. AS, CS, FGFRs, TD
2017 Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis. ---
2015 Pfeiffer syndrome: clinical and genetic findings in five Brazilian families. FGFR1 and 2
2013 FGFR1 and FGFR2 mutations in Pfeiffer syndrome. ---
2013 Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. ---
2012 Central nervous system malformations and deformations in FGFR2-related craniosynostosis. ---
2012 Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan. ---
2010 Audiologic findings in Pfeiffer syndrome. minor to severe
10  2006 Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. ---
11  2006 Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. CS, FGFR, JW
12  2004 Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. AS, CS, FGFR2
13  1999 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. FGFR
14  1998 Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. ---
15  1998 Pfeiffer syndrome type 2: further delineation and review of the literature. FGFR2
16  1996 Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. FGFR1
17  1996 Type 3 Pfeiffer syndrome with normal thumbs. FGFR1, FGFR2
18  1995 Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. FGFR1, FGFR2
19  1994 A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. FGFR1
20  1994 Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. ---