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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

Papers overview

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Review
2012
Review
2012
Cell signaling mediated by morphogens is essential to coordinate growth and patterning, two key processes that govern the… 
Highly Cited
2011
Highly Cited
2009
Highly Cited
2009
Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is… 
Highly Cited
2007
Highly Cited
2007
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and… 
Highly Cited
2004
Highly Cited
2004
Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial… 
Highly Cited
2003
Highly Cited
2003
Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening… 
Highly Cited
2001
Highly Cited
2001
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
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
Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and… 
Highly Cited
1988
Highly Cited
1988
Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the…