Sudden infant death syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sudden infant death in a patient with FGFR3 P250R mutation.
|
17103449 |
2006 |
Muenke Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3.
|
31111620 |
2019 |
Muenke Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.
|
17103449 |
2006 |
Sensorineural Hearing Loss (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.
|
17103449 |
2006 |
Congenital abnormal Synostosis
|
|
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 |
Apert syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
Muenke Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
Scaphycephaly
|
|
0.010 |
GeneticVariation
|
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
Sagittal craniosynostosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
Congenital abnormal Synostosis
|
|
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 |
Brachycephaly
|
|
0.020 |
GeneticVariation
|
BEFREE |
Hence, while 68% of females carrying the P250R mutation showed brachycephaly, only 35% of males had the same phenotype.
|
9950359 |
1999 |
Congenital abnormal Synostosis
|
|
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 |
Cutis Gyrata Syndrome of Beare And Stevenson
|
|
0.010 |
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 |
Coronal craniosynostosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
|
9950359 |
1999 |
Brachycephaly
|
|
0.020 |
GeneticVariation
|
BEFREE |
Suboptimal morphological and mental outcomes can be expected in patients with nonsyndromic brachycephaly who carry the FGFR3 P250R mutation.
|
12087222 |
2002 |
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Taken together, these results indicate that the P250R FGFR3 mutation is mostly familial and is associated with a more severe phenotype in females than in males.
|
9950359 |
1999 |
Craniosynostosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R.
|
9279764 |
1997 |
Muenke Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred.
|
19215249 |
2009 |
Epithelial hyperplasia of skin
|
|
0.010 |
GeneticVariation
|
BEFREE |
This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes.
|
11424131 |
2001 |