EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.
|
27827381 |
2017 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Ehlers-Danlos syndromes, rare types.
|
28306225 |
2017 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This study expands the phenotypic spectrum of B4GALT7 mutations, initially described as responsible for the progeroid variant of Ehlers-Danlos syndrome.
|
24755949 |
2015 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
This study expands the phenotypic spectrum of B4GALT7 mutations, initially described as responsible for the progeroid variant of Ehlers-Danlos syndrome.
|
24755949 |
2015 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers-Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome.
|
23956117 |
2013 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
|
15211654 |
2004 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
Biomarker
|
disease |
BEFREE |
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.
|
12417421 |
2002 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.
|
10506123 |
1999 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid.
|
3631078 |
1987 |
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|