×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
GeneticVariation
disease
UNIPROT
We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.
16630169
2006
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
GeneticVariation
disease
UNIPROT
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
GeneticVariation
disease
BEFREE
Moreover, haploinsufficiency caused by defective FGF10 mutants leads to LADD syndrome .
17682060
2007
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
GeneticVariation
disease
BEFREE
We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.
16630169
2006
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
GeneticVariation
disease
BEFREE
Mutations in fibroblast growth factor receptor 2 (FGFR2) and its ligand, FGF10 , are known to cause lacrimo-auriculo-dento-digital (LADD) syndrome .
18056630
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
GeneticVariation
disease
UNIPROT
We aimed to elucidate the mechanism by which a missense mutation in the tyrosine kinase domain of FGFR2 , described in the sporadic case of LADD syndrome , leads to reduced tyrosine kinase activity.
18056630
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
GeneticVariation
disease
UNIPROT
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
0.720
GeneticVariation
disease
UNIPROT
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
0.720
GeneticVariation
disease
BEFREE
Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3 ) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders.
19215249
2009
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
0.720
GeneticVariation
disease
BEFREE
In addition, this is the first FGFR3 mutation recognized in the Iranian LADD family.
28483234
2017
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
Biomarker
disease
CTD_human
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
Biomarker
disease
MGD
FGF and EDA pathways control initiation and branching of distinct subsets of developing nasal glands.
27590203
2016
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
Biomarker
disease
GENOMICS_ENGLAND
We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.
16630169
2006
×
Entrez Id:
2255
Gene Symbol:
FGF10
FGF10
0.930
Biomarker
disease
GENOMICS_ENGLAND
Morphogenesis.
9988217
1999
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
Biomarker
disease
GENOMICS_ENGLAND
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
28425981
2017
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
Biomarker
disease
CTD_human
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
Biomarker
disease
BEFREE
Genetic studies have implicated heterozygous mutations in fibroblast growth factor 10 (FGF10) and in FGF receptor 2 (FGFR2 ) in LADD syndrome .
17682060
2007
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
Biomarker
disease
GENOMICS_ENGLAND
Mutations in different components of FGF signaling in LADD syndrome.
16501574
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
Biomarker
disease
BEFREE
Together, these results identify a role for Fgfr2 in development of the middle ear skeletal tissues and suggest potential causes for conductive hearing loss in LADD syndrome .
30253032
2019
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
Biomarker
disease
GENOMICS_ENGLAND
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
8696350
1996
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.730
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
0.720
Biomarker
disease
GENOMICS_ENGLAND
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
7647778
1995