×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.
28017249
2017
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
Expanding the genotypic spectrum of Perrault syndrome.
26970254
2017
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
Biomarker
phenotype
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
27243974
2016
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
27290639
2016
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.
25882080
2015
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
Biomarker
phenotype
GENOMICS_ENGLAND
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
25967389
2015
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
Biomarker
phenotype
GENOMICS_ENGLAND
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
25655951
2015
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
CausalMutation
phenotype
CLINVAR
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
25967389
2015
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
Biomarker
phenotype
CTD_human
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
25526675
2015
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
25967389
2015
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GermlineCausalMutation
phenotype
ORPHANET
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
25967389
2015
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
CausalMutation
phenotype
CLINVAR
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.
25882080
2015
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GermlineCausalMutation
phenotype
ORPHANET
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.
24553428
2014
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
24108619
2014
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
23100014
2013
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
Biomarker
phenotype
MGD
Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation.
23777740
2013
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
On the molecular basis of D-bifunctional protein deficiency type III.
23308274
2013
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
23181892
2012
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
CausalMutation
phenotype
CLINVAR
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
23181892
2012
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
GeneticVariation
phenotype
CLINVAR
Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.
22864515
2012
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
Biomarker
phenotype
GENOMICS_ENGLAND
Differential diagnosis in patients with suspected bile acid synthesis defects.
22416181
2012
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
CausalMutation
phenotype
CLINVAR
Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.
22864515
2012
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
Biomarker
phenotype
MGD
Peroxisomal multifunctional protein 2 is essential for lipid homeostasis in Sertoli cells and male fertility in mice.
16484321
2006
×
Entrez Id:
3295
Gene Symbol:
HSD17B4
HSD17B4
0.900
CausalMutation
phenotype
CLINVAR
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
16385454
2006