present in Gene: FGFR2
present in Chromosome: 10
Position on Chromosome: 121520092
Alleles of this Variant: A/C
rs1057519036 in
FGFR2 gene and
Apert syndrome
PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
PMID 10394936 1999 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
PMID 9521581 1998 The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
PMID 24656465 2014 Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
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.