FAQ

SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2

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

Topic mentions per year

Topic mentions per year

1991-2010
0119912010

Related topics

Related topics

3 relations

Broader (1)

Dysostoses
MESP2 geneSPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3

Related mentions per year

Related mentions per year

1937-2018
19401960198020002020
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
Dysostoses
MESP2 gene
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… (More)
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
2008
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… (More)
Is this relevant?
2004
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… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Review
2004
Review
2004
[Spondylocostal dysostosis: a rare genetic disease].
Spondylocostal dysostoses represent a group of very rare genetic disorders, characterised by vertebral and costal segmentation… (More)
Is this relevant?
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… (More)
Is this relevant?
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… (More)
Is this relevant?