Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Although mouse Por gene ablation causes embryonic lethality, POR missense mutations cause disordered steroidogenesis, ambiguous genitalia, and Antley-Bixler syndrome (ABS), which has also been attributed to fibroblast growth factor receptor 2 (FGFR2) mutations.
|
15793702 |
2005 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
|
10633130 |
2000 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
Biomarker
|
disease |
CTD_human |
We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
9605588 |
1998 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
9605588 |
1998 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
|
8696350 |
1996 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
9605588 |
1998 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
|
16061565 |
2005 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
|
28425981 |
2017 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
|
9605588 |
1998 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Antley-Bixler syndrome (ABS) represents a group of heterogeneous disorders characterized by skeletal, cardiac, and urogenital abnormalities that have frequently been associated with mutations in fibroblast growth factor receptor 2 or cytochrome P450 reductase genes.
|
21705796 |
2011 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
|
10633130 |
2000 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Antley-Bixler syndrome with normal steroidogenesis is caused by autosomal dominant gain-of-function mutations in fibroblast growth factor receptor 2.
|
18259105 |
2008 |
Antley-Bixler Syndrome, Autosomal Dominant
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in different components of FGF signaling in LADD syndrome.
|
16501574 |
2006 |