Variant: rs121918490 

    present in Gene: FGFR2
    present in Chromosome: 10
    Position on Chromosome: 121517342
    Alleles of this Variant: G/C

rs121918490 in FGFR2 gene and Craniofacial dysostosis type 1 PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 10574673 1999 A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

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 8946174 1996 Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

PMID 9521581 1998 The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

PMID 9152842 1997 A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

PMID 11380921 2001 Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.

PMID 7874170 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 8956050 1996 Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 7581378 1995 Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

rs121918490 in FGFR2 gene and Dysmorphic features PMID 10067911 1999 Clinical variability in patients with Apert's syndrome.

PMID 11343323 2001 "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

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

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 7573032 1995 Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

PMID 28901406 2017 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

PMID 25245177 2014 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.

PMID 10712195 2000 Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PMID 19610084 2009 Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

PMID 8434615 1993 Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

PMID 25343114 2013 The molecular and cellular basis of Apert syndrome.

PMID 10735635 2000 Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

PMID 15883293 2005 Limbal stem cell deficiency associated with LADD syndrome.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 18726952 2009 Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

PMID 1519658 1992 Beare-Stevenson cutis gyrata syndrome.

PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PMID 16740155 2006 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 25209230 2014 Non surgical treatment of Crouzon syndrome.

PMID 15793702 2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

rs121918490 in FGFR2 gene and JACKSON-WEISS SYNDROME PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 7989400 1994 Steroids in multiple sclerosis.

PMID 8755573 1996 Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.

PMID 27028366 2016 Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

PMID 12884424 2003 Screening of patients with craniosynostosis: molecular strategy.

PMID 16418739 2006 Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

PMID 17693524 2007 Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

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

rs121918490 in FGFR2 gene and Multiple congenital anomalies PMID 15883293 2005 Limbal stem cell deficiency associated with LADD syndrome.

PMID 10735635 2000 Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

PMID 1519658 1992 Beare-Stevenson cutis gyrata syndrome.

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 10712195 2000 Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PMID 11343323 2001 "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."

PMID 15793702 2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 10067911 1999 Clinical variability in patients with Apert's syndrome.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 7573032 1995 Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

PMID 8434615 1993 Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

PMID 25245177 2014 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.

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

PMID 25209230 2014 Non surgical treatment of Crouzon syndrome.

PMID 18726952 2009 Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 28901406 2017 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 16740155 2006 Pfeiffer syndrome.

PMID 19610084 2009 Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PMID 25343114 2013 The molecular and cellular basis of Apert syndrome.

rs121918490 in FGFR2 gene and Overgrowth PMID 11343323 2001 "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."

PMID 18726952 2009 Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

PMID 7573032 1995 Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

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

PMID 1519658 1992 Beare-Stevenson cutis gyrata syndrome.

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PMID 25209230 2014 Non surgical treatment of Crouzon syndrome.

PMID 19610084 2009 Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 28901406 2017 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

PMID 25245177 2014 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 8434615 1993 Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 10067911 1999 Clinical variability in patients with Apert's syndrome.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

PMID 16740155 2006 Pfeiffer syndrome.

PMID 25343114 2013 The molecular and cellular basis of Apert syndrome.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 15883293 2005 Limbal stem cell deficiency associated with LADD syndrome.

PMID 10712195 2000 Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 10735635 2000 Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

PMID 15793702 2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.