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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

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4 relations

Broader (1)

Dysostoses
MESP2 geneMESP2, 4-BP DUP, 500ACCGSPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3

Papers overview

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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...].
 
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2010
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
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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
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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
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1993
1993
Spondylocostal dysostosis
Spondylocostal dysostosis is a rare condition characterized by short stature due to a short trunk, multiple morphological… Expand
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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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