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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2018
Highly Cited
2018
Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways… Expand
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Review
2016
Review
2016
Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive… Expand
Highly Cited
2015
Highly Cited
2015
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and… Expand
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Highly Cited
2011
Highly Cited
2011
It is fundamentally important that signaling gradients provide positional information to govern morphogenesis of multicellular… Expand
Highly Cited
2010
Highly Cited
2010
Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is… Expand
Highly Cited
2007
Highly Cited
2007
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and… Expand
Highly Cited
2004
Highly Cited
2004
Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial… Expand
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… Expand
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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… Expand
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Highly Cited
2000
Highly Cited
2000
Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and… Expand
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