ZMPSTE24
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
We report a 12-year-old boy with mandibuloacral dysplasia with type B lipodystrophy and a novel homozygous c.1196A>G; p.(Tyr399Cys) mutation in ZMPSTE24.
|
27410998 |
2016 |
ZMPSTE24
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
|
20814950 |
2010 |
ZMPSTE24
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
|
18435794 |
2008 |
ZMPSTE24
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
|
18435794 |
2008 |
ZMPSTE24
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
|
18435794 |
2008 |
ZMPSTE24
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
|
17152860 |
2006 |
ZMPSTE24
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
|
17152860 |
2006 |
ZMPSTE24
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
|
15317753 |
2004 |
ZMPSTE24
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
|
12913070 |
2003 |
ZMPSTE24
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
|
12913070 |
2003 |
ZMPSTE24
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
|
12913070 |
2003 |
ZMPSTE24
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
ZMPSTE24
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
ZMPSTE24
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|