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SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
Known as:
Spondylocostal dysostosis, autosomal recessive
, Spondylocostal Dysostosis 2, Autosomal Recessive
, SCDO2
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National Institutes of Health
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Related topics
Related topics
4 relations
Broader (1)
Dysostoses
MESP2 gene
MESP2, 4-BP DUP, 500ACCG
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Infant of a Diabetic Mother with Spondylocostal Dysostosis and Multiple Congenital Anomalies
H. H. Toptan
,
N. Karadag
,
Abdulhamit Tuten
,
T. Yildirim
,
G. Karatekin
2017
Corpus ID: 21953768
Jarcho-Levin syndrome is a rare genetic disorder characterized by respiratory insufficiency and multiple spine and rib…
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2013
2013
Figure 5. [SCDO4, caused by pathogenic variants...].
P. Turnpenny
,
Elizabeth Young
2013
Corpus ID: 185627228
Highly Cited
2010
Highly Cited
2010
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis
D. Sparrow
,
D. Sillence
,
M. A. Wouters
,
P. Turnpenny
,
S. Dunwoodie
European Journal of Human Genetics
2010
Corpus ID: 8727044
Spondylocostal dysostosis (SCD) is an inherited disorder with abnormal vertebral segmentation that results in extensive…
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Highly Cited
2008
Highly Cited
2008
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.
D. Sparrow
,
E. Guillén-Navarro
,
D. Fatkin
,
S. Dunwoodie
Human molecular genetics
2008
Corpus ID: 2769503
Spondylocostal dysostosis (SCD) is an inherited disorder that is characterized by the presence of extensive hemivertebrae…
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Highly Cited
2004
Highly Cited
2004
Mutated MESP2 causes spondylocostal dysostosis in humans.
N. Whittock
,
D. Sparrow
,
+4 authors
P. Turnpenny
American journal of human genetics
2004
Corpus ID: 15712597
Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of disorders characterized by abnormal vertebral…
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2003
2003
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis
N. Whittock
,
P. Turnpenny
,
J. Tuerlings
,
S. Ellard
Prenatal diagnosis
2003
Corpus ID: 12561204
Autosomal recessive spondylocostal dysostosis type 1 (ARSCD1) is a member of the heterogeneous group of disorders termed the…
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1994
1994
Spondylocostal dysostosis with perinatal death and meningomyelocele.
M. M. Rodríguez
,
A. Mejías
,
R. Haun
,
M. B. Mata
,
J. Bruce
Pediatric pathology
1994
Corpus ID: 20860828
A preterm black girl was born at 35 weeks of gestation to a healthy nonconsanguineous couple. She had a very short trunk with…
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1993
1993
Spondylocostal dysostosis
A. Kher
,
M. Bhat
,
K. Ratnam
,
S. Khambadkone
,
B. Bharucha
,
S. Irani
Indian journal of pediatrics
1993
Corpus ID: 25843312
Spondylocostal dysostosis is a rare condition characterized by short stature due to a short trunk, multiple morphological…
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1991
1991
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.
P. Turnpenny
,
R. Thwaites
,
F. Boulos
Journal of medical genetics
1991
Corpus ID: 38954577
Seven members of a large inbred kindred with autosomal recessive spondylocostal dysostosis were examined clinically…
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