Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For the first time in Chinese population, we characterized a novel variation in ROR2 gene causing ARRS.
|
31617258 |
2020 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive Robinow syndrome (ARRS) is caused by mutations in the ROR2 gene.
|
26284319 |
2015 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive Robinow syndrome (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2.
|
22178368 |
2012 |
Robinow syndrome, autosomal recessive
|
1.000 |
Biomarker
|
disease |
MGD |
Ror2 enhances polarity and directional migration of primordial germ cells.
|
22216013 |
2011 |
Robinow syndrome, autosomal recessive
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.
|
19461659 |
2009 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ROR2, encoding the receptor tyrosine kinase-like orphan receptor 2, cause two distinct skeletal diseases: autosomal dominant brachydactyly type B1 (BDB1) and autosomal recessive Robinow syndrome.
|
19461659 |
2009 |
Robinow syndrome, autosomal recessive
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
|
19640924 |
2009 |
Robinow syndrome, autosomal recessive
|
1.000 |
Biomarker
|
disease |
MGD |
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome.
|
18353862 |
2008 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B.
|
17632781 |
2007 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ROR2 have been shown to cause two distinct human disorders, autosomal recessive Robinow syndrome and dominantly inherited Brachydactyly type B.
|
17665217 |
2007 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic "fetal face" dysmorphology.
|
15952209 |
2005 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Specifically, mutant alleles of ROR2 that are associated with RRS are retained within the ER, whereas wild-type and non-pathogenic alleles are exported to the plasma membrane.
|
16049033 |
2005 |
Robinow syndrome, autosomal recessive
|
1.000 |
Biomarker
|
disease |
CTD_human |
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.
|
15952209 |
2005 |
Robinow syndrome, autosomal recessive
|
1.000 |
Biomarker
|
disease |
MGD |
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.
|
14745966 |
2004 |
Robinow syndrome, autosomal recessive
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.
|
14745966 |
2004 |
Robinow syndrome, autosomal recessive
|
1.000 |
Biomarker
|
disease |
CTD_human |
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
|
12815588 |
2003 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We detected several homozygous ROR2 mutations in our cohort of RRS patients that are located upstream from those previously found in BDB.
|
10932187 |
2000 |
Robinow syndrome, autosomal recessive
|
1.000 |
Biomarker
|
disease |
MGD |
Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation.
|
10651906 |
2000 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We detected several homozygous ROR2 mutations in our cohort of RRS patients that are located upstream from those previously found in BDB.
|
10932187 |
2000 |
Robinow syndrome, autosomal recessive
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
|
10932186 |
2000 |
Robinow syndrome, autosomal recessive
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
|
10932186 |
2000 |
Robinow syndrome, autosomal recessive
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|