|
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 |
|
|
|
|
BRACHYDACTYLY, TYPE B1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human receptor tyrosine kinase ROR2 are associated with Robinow syndrome (RRS) and brachydactyly type B1.
|
30801848 |
2019 |
|
BRACHYDACTYLY, TYPE B1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in the ROR2 gene cause two distinct developmental syndromes, recessive Robinow syndrome (RRS; MIM 268310) and dominant brachydactyly type B1 (BDB1; MIM 113000).
|
28236965 |
2017 |
|
BRACHYDACTYLY, TYPE B1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
BDB1 is caused by mutations in the receptor tyrosine kinase gene ROR2, which maps to chromosome 9q22, whereas BDB2 is caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
|
24954533 |
2014 |