Condition: Pfeiffer Syndrome
rs121909627 in
FGFR1 gene and
Pfeiffer Syndrome
PMID 24497711 2013 Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
PMID 7874169 1994 A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
PMID 16957473 2006 We report a four-generation family with an FGFR1 P252R mutation, who have typical hand and feet skeletal features of Pfeiffer syndrome without craniofacial involvement.
PMID 14613973 2004 However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
PMID 10942429 2000 These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression.
PMID 7795583 1995 Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
PMID 14564217 2003 We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome.
PMID 25251565 2014 Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
PMID 10861678 2000 Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations.
PMID 12627230 2003 Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
PMID 16764984 2006 Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
PMID 28754744 2017 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
PMID 27502037 2016 Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
rs121913478 in
FGFR2 gene and
Pfeiffer Syndrome
PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
PMID 9002682 1997 Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
PMID 9693549 1998 Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
PMID 9150725 1997 Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
PMID 7719345 1995 Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
PMID 16844695 2006 Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
PMID 7719333 1995 FGFR2 mutations in Pfeiffer syndrome.
PMID 9719378 1998 Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
PMID 10945669 2000 Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.
PMID 10394936 1999 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
PMID 25759925 2015 The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.
PMID 12884424 2003 Screening of patients with craniosynostosis: molecular strategy.
PMID 9150725 1997 Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
PMID 9693549 1998 Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
PMID 9521581 1998 The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
PMID 7795583 1995 Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
PMID 9462761 1998 Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.
PMID 8651276 1996 Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
PMID 25867380 2015 Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
PMID 7719344 1995 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
PMID 11390973 2001 Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
PMID 22664175 2012 Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome.
PMID 24489893 2014 A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation.
PMID 23495007 2013 The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.