|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
|
26277103 |
2015 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
|
25077900 |
2014 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
|
22927827 |
2012 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
|
21700882 |
2011 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
|
19820032 |
2009 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
|
17154279 |
2007 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
|
16764984 |
2006 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
|
16606836 |
2006 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
|
16757108 |
2006 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
|
16882753 |
2006 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
|
15605412 |
2005 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.
|
15845591 |
2005 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
|
15001591 |
2004 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
|
12627230 |
2003 |
|
Kallmann Syndrome 2 (disorder)
|
|
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Split-Hand/Foot Malformation
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
|
31420900 |
2019 |
|
Hypodontia
|
|
0.010 |
GeneticVariation
|
BEFREE |
A mutation of TP63 (c.1010G>T; R337L) leads to SHFM with hypodontia.
|
31420900 |
2019 |