Condition: Cutis Gyrata Syndrome of Beare And Stevenson
rs1057519037 in
FGFR2 gene and
Cutis Gyrata Syndrome of Beare And Stevenson
PMID 25361936 2014 Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.
PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
PMID 23348274 2013 FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
PMID 8946174 1996 Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
PMID 12575301 2002 [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases].
PMID 23754559 2013 Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.
PMID 8696350 1996 Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
PMID 12000365 2002 Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.
PMID 9586546 1998 Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
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 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
PMID 12884434 2003 Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
PMID 27481450 2016 FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
PMID 12884424 2003 Screening of patients with craniosynostosis: molecular strategy.
PMID 16158432 2005 Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
PMID 7874170 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
PMID 7773284 1995 Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.
PMID 7558045 1995 A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene.
PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
PMID 16838304 2006 Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
PMID 8957519 1996 FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
PMID 25425289 2015 A novel mutation in FGFR2.