SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
|
29068549 |
2018 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
|
28332779 |
2017 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
|
28332779 |
2017 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel homozygous missense mutation in WDR35 (c.206G > A), a gene previously associated with Sensenbrenner Syndrome, Ellis-van Creveld syndrome and Short-rib polydactyly syndrome type V. The genetic findings in this family led to the re-evaluation of the initial diagnosis and a differential diagnosis of Sensenbrenner Syndrome was made after cautious re-examination of the patient.
|
28870638 |
2017 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
|
28400947 |
2017 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
|
28400947 |
2017 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
|
28400947 |
2017 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
WDR35, an intraflagellar transport protein previously associated with cranioectodermal dysplasia, the more severe short rib polydactyly syndrome type V and recently Ellis van Creveld syndrome, is present within a region of homozygosity and sequencing of all coding exons identified a novel homozygous nonsynonymous variant, p.Trp1153Cys.
|
26691894 |
2016 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
|
27158779 |
2016 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
|
27158779 |
2016 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
|
25908617 |
2015 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
|
25914204 |
2015 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.
|
25914204 |
2015 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
|
22486404 |
2013 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).
|
22486404 |
2013 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
|
21473986 |
2011 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
|
21473986 |
2011 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
|
21473986 |
2011 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
Biomarker
|
disease |
MGD |
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
|
21473986 |
2011 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
|
21473986 |
2011 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GermlineCausalMutation
|
disease |
ORPHANET |
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
|
21473986 |
2011 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
GermlineCausalMutation
|
disease |
ORPHANET |
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.
|
17935248 |
2007 |
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CRANIOECTODERMAL DYSPLASIA 1
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Mutations of WDR35 may cause genetic diseases including Sensenbrenner syndrome.
|
30570184 |
2019 |