|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Overall, this study demonstrates a more comprehensive analysis on the craniofacial morphological abnormalities in EvC syndrome and provides the developmental insight to appreciate the impact of Evc2 mutation within the neural crest cells on multiple aspects of skull deformities.Anat Rec, 2017.
|
28950429 |
2018 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ellis-van Creveld syndrome (EvC) is a chondral and ectodermal dysplasia caused by biallelic mutations in the EVC, EVC2 and WDR35 genes.
|
28857138 |
2018 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We previously disrupted <i>Evc2</i>, one of the causative genes for EvC syndrome, in mice using a neural crest-specific, <i>Cre</i>-mediated approach (i.e., P0-<i>Cre</i>, referred to as <i>Evc2 P0</i> mutants).
|
30410447 |
2018 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.
|
28081373 |
2017 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
|
26580685 |
2016 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in autosomal recessive congenital malformations.
|
27280866 |
2016 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This is, to our knowledge, a most severe phenotype of EVC syndrome, illustrating that the specific pattern of EVC2 compound heterozygous mutations may cause severe developmental delay and intestinal malfunction.
|
26818569 |
2016 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
|
26748586 |
2016 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
|
26748586 |
2016 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC.
|
26748586 |
2016 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
This is, to our knowledge, a most severe phenotype of EVC syndrome, illustrating that the specific pattern of EVC2 compound heterozygous mutations may cause severe developmental delay and intestinal malfunction.
|
26818569 |
2016 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
De novo mutations in autosomal recessive congenital malformations.
|
27280866 |
2016 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of both EVC and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively.
|
26621368 |
2016 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Availability of the conditional allele for this gene should facilitate further detailed analyses of the role of EVC2/LIMBIN in pathogenesis of EvC syndrome. genesis 53:612-626, 2015.© 2015 Wiley Periodicals, Inc.
|
26219237 |
2015 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested.
|
25908617 |
2015 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Availability of the conditional allele for this gene should facilitate further detailed analyses of the role of EVC2/LIMBIN in pathogenesis of EvC syndrome. genesis 53:612-626, 2015.© 2015 Wiley Periodicals, Inc.
|
26219237 |
2015 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.
|
23220543 |
2013 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.
|
23220543 |
2013 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.
|
23220543 |
2013 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of the Ellis van Creveld syndrome cases, 20/27 (74%) had a mutation in EVC and 7/27 (26%) in EVC2 genes.
|
23220543 |
2013 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
In 5 unrelated cases with a clinical diagnosis of Ellis van Creveld syndrome, we did not find any mutation in either EVC or EVC2 genes.
|
23220543 |
2013 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC.
|
23026208 |
2012 |
|
Ellis-Van Creveld Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, WDR19, and TTC21B) as well as in genes responsible for the basal body (NEK1, EVC, and EVC2).
|
22791528 |
2012 |