Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2
Author:
Publisher
Wiley
Subject
Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1442-200x.2001.01379.x/fullpdf
Reference11 articles.
1. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.;Tartaglia;Hum. Genet.,1997
2. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a Pfeiffer syndrome type 2 case.;Schaefer;Am. J. Med. Genet.,1998
3. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.;Cohen;Am. J. Med. Genet.,1993
4. Novel FGFR2 mutations in Crouzon and Jackson Weiss syndromes show allelic heterogeneity and phenotypic variability.;Park;Hum. Mol. Genet.,1995
5. Mutation in the fibroblast growth factor receptor 2 gene causes Crouzon syndrome.;Readon;Nature Genet.,1994
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1. Type II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report;Journal of Medical Case Reports;2022-11-01
2. Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency;Clinical Case Reports;2021-10
3. Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant;Child's Nervous System;2021-01-06
4. A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality;Genetics in Medicine;2019-02
5. A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome;American Journal of Medical Genetics Part A;2017-08-16
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