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SPONDYLOCOSTAL DYSOSTOSIS 5

Known as: COSTOVERTEBRAL SEGMENTATION ANOMALIES, SPONDYLOTHORACIC DYSOSTOSIS, SPONDYLOCOSTAL DYSPLASIA 
National Institutes of Health

Papers overview

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2010
2010
Background Spondylocostal dysplasia (SCD) constitutes a heterogeneous patient group with multiple vertebral formations and… 
Highly Cited
2004
Highly Cited
2004
Spondylothoracic dysplasia (STD, MIM#277300) is an autosomal recessive disorder with high prevalence in the Puerto Rican… 
Highly Cited
2002
Highly Cited
2002
A loss-of-function mutation in the mouse delta-like3 (Dll3) gene has been generated following gene targeting, and results in… 
2002
2002
The Notch signalling pathway has a central role in a wide variety of developmental processes and it is not therefore surprising… 
2000
2000
We report on a four-generation inbred family including 10 individuals affected with a form of craniotubular dysplasia (CTD). All… 
1998
1998
  • G. WongD. Levine
  • Ultrasound in Obstetrics and Gynecology
  • 1998
  • Corpus ID: 28065496
This report describes two consecutive pregnancies in a Puerto Rican woman that were complicated by the autosomal recessive form… 
1997
1997
Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems… 
1992
1988
1988
We report the first prenatal identification using ultrasound of a fetus affected with spondylocostal dysplasia type I, or Jarcho…