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SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2

Known as: Spondylocostal dysostosis, autosomal recessive, Spondylocostal Dysostosis 2, Autosomal Recessive, SCDO2 
 
National Institutes of Health

Related topics

Related topics

4 relations

Broader (1)

Dysostoses
MESP2 geneMESP2, 4-BP DUP, 500ACCGSPONDYLOCOSTAL 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
Jarcho-Levin syndrome is a rare genetic disorder characterized by respiratory insufficiency and multiple spine and rib… Expand
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2013
2013
Figure 5. [SCDO4, caused by pathogenic variants...].
 
Highly Cited
2010
Highly Cited
2010
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis
Spondylocostal dysostosis (SCD) is an inherited disorder with abnormal vertebral segmentation that results in extensive… Expand
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Highly Cited
2008
Highly Cited
2008
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.
Spondylocostal dysostosis (SCD) is an inherited disorder that is characterized by the presence of extensive hemivertebrae… Expand
Highly Cited
2004
Highly Cited
2004
Mutated MESP2 causes spondylocostal dysostosis in humans.
Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of disorders characterized by abnormal vertebral… Expand
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2003
2003
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis
Autosomal recessive spondylocostal dysostosis type 1 (ARSCD1) is a member of the heterogeneous group of disorders termed the… Expand
1994
1994
Spondylocostal dysostosis with perinatal death and meningomyelocele.
A preterm black girl was born at 35 weeks of gestation to a healthy nonconsanguineous couple. She had a very short trunk with… Expand
1993
1993
Spondylocostal dysostosis
Spondylocostal dysostosis is a rare condition characterized by short stature due to a short trunk, multiple morphological… Expand
1991
1991
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.
Seven members of a large inbred kindred with autosomal recessive spondylocostal dysostosis were examined clinically… Expand
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