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Robinow Syndrome

Known as: Robinow Syndrome, Autosomal Dominant, Robinow-Silverman-Smith Syndrome, ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES 
A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ROR2 gene. There is no… 
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal dominant inheritanceDelayed eruption of teethHydronephrosisMacroglossia

Broader (4)

Craniofacial AbnormalitiesDwarfismLimb Deformities, CongenitalUrogenital Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Wnt signaling in development and disease
Cell signaling mediated by morphogens is essential to coordinate growth and patterning, two key processes that govern the… 
Highly Cited
2011
Highly Cited
2011
Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2.
Highly Cited
2009
Highly Cited
2009
WNT5A mutations in patients with autosomal dominant Robinow syndrome
Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is… 
Highly Cited
2007
Highly Cited
2007
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and… 
Highly Cited
2004
Highly Cited
2004
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome
Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial… 
Highly Cited
2003
Highly Cited
2003
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B
Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening… 
Highly Cited
2001
Highly Cited
2001
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
Perlecan is a large heparan sulfate (HS) proteoglycan present in all basement membranes and in some other tissues such as… 
Highly Cited
2000
Highly Cited
2000
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone… 
Highly Cited
2000
Highly Cited
2000
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and… 
Highly Cited
1988
Highly Cited
1988
Robinow syndrome.
Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the… 
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