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… (More)
National Institutes of Health

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2015
2015
Robinow syndrome (RS) is a phenotypically and genetically heterogeneous condition that can be caused by mutations in genes… (More)
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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… (More)
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2010
Highly Cited
2010
Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is… (More)
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2004
2004
Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial… (More)
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2003
2003
Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening… (More)
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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… (More)
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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… (More)
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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… (More)
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1998
1998
We present the characteristic features of 14 children with the recessive form of Robinow syndrome and the growth hormone (GH… (More)
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1986
1986
A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or… (More)
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