SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

Known as: SCT, Synspondylism, congenital, SCT Syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1966-2017
0102019662017

Related topics

Related topics

19 relations
Autosomal recessive inheritanceCataractCleft PalateClinodactyly of the 5th finger
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Broader (5)

Bone structure of lumbar vertebraBone structure of thoracic vertebraCongenital abnormal SynostosisMultiple congenital anomalies
(More)

Related mentions per year

Related mentions per year

1936-2019
19401960198020002020
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
Sensorineural Hearing Loss (disorder)
Cataract
Autosomal recessive inheritance
Bone structure of lumbar vertebra
Musculoskeletal Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome
Spondylocarpotarsal synostosis syndrome (SCT) is a rare Mendelian disorder (OMIM #272460) characterized by prenatal vertebral… (More)
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2008
2008
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.
Spondylocarpotarsal synostosis syndrome (SCT) (OMIM 272460), originally thought to be a failure of normal spine segmentation, is… (More)
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2008
2008
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.
We report on a 5-year-old boy with spondylocarpotarsal synostosis (SCT) syndrome who presents with disproportionate short stature… (More)
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2007
2007
Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.
Mutations in filamin B (FLNB), a gene encoding a cytoplasmic actin-binding protein, have been found in human skeletal disorders… (More)
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2006
2006
Superiority of allogeneic hematopoietic stem-cell transplantation compared with chemotherapy alone in high-risk childhood T-cell acute lymphoblastic leukemia: results from ALL-BFM 90 and 95.
PURPOSE The role of hematopoietic stem-cell transplantation (SCT) in first complete remission (CR1) for children with very high… (More)
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2006
2006
Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation
Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral… (More)
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2005
2005
Improved outcome of treatment-resistant high-risk Langerhans cell histiocytosis after allogeneic stem cell transplantation with reduced-intensity conditioning
Summary:Children with multisystem Langerhans cell histiocytosis (LCH) and risk organ involvement who fail to respond to… (More)
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2004
2004
Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)
Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tarsal fusions… (More)
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2004
2004
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.
Spondylocarpotarsal synostosis syndrome is a rare autosomal recessive disorder characterised by vertebral fusions, frequently… (More)
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2001
2001
Real-time quantitative PCR for detection of minimal residual disease before allogeneic stem cell transplantation predicts outcome in children with acute lymphoblastic leukemia
Allogeneic stem cell transplantation (SCT) is commonly used in the treatment of children with high-risk or relapsed acute… (More)
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