Jarcho-Levin syndrome

Known as: Spondylocostal dysplasia, recessive form, Spondylocostal Dysostosis 1, Autosomal Recessive, COSTOVERTEBRAL DYSPLASIA 
A rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in… (More)
National Institutes of Health

Papers overview

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2008
2008
Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by… (More)
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2008
2008
Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a… (More)
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Highly Cited
2005
Highly Cited
2005
Mutations in the DSL (Delta, Serrate, Lag2) Notch (N) ligand Delta-like (Dll) 3 cause skeletal abnormalities in spondylocostal… (More)
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2004
2004
Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and characterized by short trunk dwarfism, "crab-like" rib cage… (More)
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Review
2004
Review
2004
Jarcho-Levin syndrome is a rare genetic disorder characterized by multiple vertebral and rib anomalies. There are two types of… (More)
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Review
2003
Review
2003
The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic… (More)
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1994
1994
literature(2,3). Recently, this syndrome has been divided into two major subtypes: spondylothoracic dysostosis and spondylocostal… (More)
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1994
1994
Spondylothoracic dysostosis, or Jarcho-Levin syndrome, together with spondylocostal dysostosis, constitute a heterogeneous group… (More)
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1993
1993
Two infants with the Jarcho-Levin syndrome of vertebral anomalies underwent flexible fibre optic bronchoscopy. Central airway… (More)
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1991
1991
Jarcho-Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis characterized by severe deformity of the… (More)
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