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Robinow Syndrome
Known as:
Robinow Syndrome, Autosomal Dominant
, Robinow-Silverman-Smith Syndrome
, ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES
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A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ROR2 gene. There is no…
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National Institutes of Health
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Related topics
Related topics
14 relations
Autosomal dominant inheritance
Delayed eruption of teeth
Hydronephrosis
Macroglossia
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Broader (4)
Craniofacial Abnormalities
Dwarfism
Limb Deformities, Congenital
Urogenital Abnormalities
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Wnt signaling in development and disease
Yingzi Yang
Cell & Bioscience
2012
Corpus ID: 5533372
Cell signaling mediated by morphogens is essential to coordinate growth and patterning, two key processes that govern the…
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Highly Cited
2011
Highly Cited
2011
Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2.
B. Gao
,
Hai Song
,
+9 authors
Yingzi Yang
Developmental Cell
2011
Corpus ID: 272920
Highly Cited
2009
Highly Cited
2009
WNT5A mutations in patients with autosomal dominant Robinow syndrome
Anthony D. Person
,
S. Beiraghi
,
+13 authors
J. Lohr
Developmental Dynamics
2009
Corpus ID: 25492914
Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is…
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Highly Cited
2007
Highly Cited
2007
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome
J. Mazzeu
,
Eliete Pardono
,
+7 authors
P. Otto
American Journal of Medical Genetics. Part A
2007
Corpus ID: 21069570
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and…
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Highly Cited
2004
Highly Cited
2004
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome
G. Schwabe
,
Britta Trepczik
,
+5 authors
S. Mundlos
Developmental Dynamics
2004
Corpus ID: 21909310
Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial…
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Highly Cited
2003
Highly Cited
2003
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B
A. R. Afzal
,
S. Jeffery
Human Mutation
2003
Corpus ID: 21096559
Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening…
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Highly Cited
2001
Highly Cited
2001
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
E. Arikawa-Hirasawa
,
W. Wilcox
,
+4 authors
Yoshihiko Yamada
Nature Genetics
2001
Corpus ID: 22934192
Perlecan is a large heparan sulfate (HS) proteoglycan present in all basement membranes and in some other tissues such as…
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Highly Cited
2000
Highly Cited
2000
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
A. R. Afzal
,
A. Rajab
,
+8 authors
S. Jeffery
Nature Genetics
2000
Corpus ID: 8675689
The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone…
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Highly Cited
2000
Highly Cited
2000
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
H. Bokhoven
,
J. Celli
,
+8 authors
H. Brunner
Nature Genetics
2000
Corpus ID: 36402844
Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and…
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Highly Cited
1988
Highly Cited
1988
Robinow syndrome.
B. Bhandari
,
S. Tak
,
R. S. Gupta
,
S. Ramakrishnan
Indian Pediatrics
1988
Corpus ID: 5158923
Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the…
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