|
rs4647924
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Considering that molecular diagnosis techniques can prove helpful in providing adequate genetic counseling and guidance, genetic screening for TWIST1 and FGFR3 p.P250R in cases of coronal synostosis is recommended.
|
22544111 |
2012 |
|
rs4647924
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses.
|
20643727 |
2010 |
|
rs4647924
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.
|
11424131 |
2001 |
|
rs4647924
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p.
|
9042914 |
1997 |
|
rs1318358361
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Considering that molecular diagnosis techniques can prove helpful in providing adequate genetic counseling and guidance, genetic screening for TWIST1 and FGFR3 p.P250R in cases of coronal synostosis is recommended.
|
22544111 |
2012 |
|
rs374608214
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Considering that molecular diagnosis techniques can prove helpful in providing adequate genetic counseling and guidance, genetic screening for TWIST1 and FGFR3 p.P250R in cases of coronal synostosis is recommended.
|
22544111 |
2012 |
|
rs1318358361
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses.
|
20643727 |
2010 |
|
rs374608214
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses.
|
20643727 |
2010 |
|
rs1318358361
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.
|
11424131 |
2001 |
|
rs374608214
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.
|
11424131 |
2001 |
|
rs28931608
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined longitudinal serum and urine steroid metabolite profiles in a 46,XY infant with PORD who was prenatally identified because of the progressive fetal masculinization and maternal virilization from the mid-gestation and the presence of fetal radio-humeral synostosis and was confirmed to have compound heterozygous mutations of POR (p.Q201X and p.R457H).
|
29289577 |
2018 |
|
rs1211950654
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability, a phenotype with significant similarities to Antley-Bixler and Pfeiffer syndromes.© 2016 Wiley Periodicals, Inc.
|
27410456 |
2016 |
|
rs1554571213
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using genetic data obtained from a six-generation Chinese family, we identified a missense variant in GDF6 (NP_001001557.1; p.Y444N) that fully segregates with a novel autosomal dominant synostoses (SYNS) phenotype, which we designate as SYNS4.
|
26643732 |
2016 |
|
rs148662051
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Resequencing of the coding regions, splice junction sites, and 5' and 3' untranslated regions of 27 candidate genes in 186 cases of isolated non-syndromic single suture synostosis revealed three novel and two rare sequence variants (R406H, R595H, N857S, P190S, M446V) in insulin-like growth factor I receptor (IGF1R) that are enriched relative to control samples.
|
21204214 |
2011 |