Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.
|
31617258 |
2020 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the autosomal dominant (AD) form of RS.
|
24932600 |
2014 |
Robinow Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the human, mutations of WNT5A or its receptor ROR2 cause the Robinow syndrome.
|
23850867 |
2013 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.
|
22178368 |
2012 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337) which causing both brachydactyly type 1 (MIM #113000) and Robinow syndrome (MIM #268310), and the immunologically active SYK gene (MIM *600085).
|
21693067 |
2011 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The etiology of dominant Robinow syndrome is unknown; however, the phenotypically more severe autosomal recessive form of Robinow syndrome has been associated with mutations in the orphan tyrosine kinase receptor, ROR2, which has recently been identified as a putative WNT5A receptor.
|
19918918 |
2010 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, mutations within the human Ror2 gene are responsible for the genetic skeletal disorders dominant brachydactyly type B and recessive Robinow syndrome.
|
19530173 |
2010 |
Robinow Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
|
19640924 |
2009 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing.
|
18831060 |
2008 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we report the identification of two novel mutations in the frizzled-like cysteine-rich domain of ROR2 causing Robinow syndrome.
|
17665217 |
2007 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.
|
17061261 |
2006 |
Robinow Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Ror2(-/-) mouse provides a suitable model that may help to explain many of the underlying developmental malformations in individuals with Robinow syndrome.
|
14745966 |
2004 |
Robinow Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1).
|
12548386 |
2003 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in ROR2.
|
12011143 |
2002 |
Robinow Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, he has vertebral anomalies, brachymelia of the arms, and a ventricular septal defect-features that are reminiscent of Robinow syndrome, which has also been shown to be caused by mutations in ROR2.
|
10986040 |
2000 |