Variant: rs121909627 

    present in Gene: FGFR1
    present in Chromosome: 8
    Position on Chromosome: 38424690
    Alleles of this Variant: G/C

rs121909627 in FGFR1 gene and JACKSON-WEISS SYNDROME PMID 10861678 2000 Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

rs121909627 in FGFR1 gene and Kallmann Syndrome 2 (disorder) PMID 7795583 1995 Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

PMID 7874169 1994 A common mutation in the fibroblast growth factor receptor 1 gene in 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 25251565 2014 Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 14613973 2004 Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.

PMID 14564217 2003 The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.

PMID 16957473 2006 FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.

PMID 10942429 2000 A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.

PMID 10861678 2000 Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

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.