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Schwartz-Jampel Syndrome

Known as: Schwartz Jampel Syndrome, Type 1, Myotonia, Chondrodystrophic, Schwartz Jampel Syndrome 
A classification for rare genetic syndromes with an autosomal recessive pattern of inheritance. Clinical features include muscle stiffness and… 
National Institutes of Health

Related topics

Related topics

29 relations
Autosomal recessive inheritanceBasement Membrane-Specific Heparan Sulfate Proteoglycan Core ProteinBlepharophimosisBlepharoptosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
A study on drug induced Stevens-Johnson Syndrome (SJS), Toxic Epidermal Necrolysis (TEN) and SJS-TEN overlap in a tertiary care hospital of Northeast India
Background : Stevens Johnson syndrome (SJS), toxic epidermal necrolysis (TEN) and SJS-TEN overlap are rare, but potentially life… 
2012
2012
Immunophenotypic analysis of erythroid dysplasia and its diagnostic application in myelodysplastic syndromes
Background/Aim:  Abnormal immunophenotypes of haematopoietic cells in myelodysplastic syndromes (MDS) have been identified by… 
2009
2009
Comparison of numerical procedures for grouping pseudomonas bacteriophages according to lytic spectra.
  • T. Bergan
  • Acta pathologica et microbiologica Scandinavica…
  • 2009
  • Corpus ID: 36248437
The host ranges of 113 typing bacteriophages have been studied at their Routine Test Dilution (RTD) for 486 strains of… 
2008
2008
The Woman in Peril and the Ruined Woman: Representations of Female Soldiers in the Iraq War
If the principle of equality is central to contemporary liberal feminism, then demonstrating that women and men have similar… 
Review
2007
Review
2007
The Schwartz-Jampel Syndrome. A Minireview
The Schwartz-Jampel Syndrome (SJS) is a very rare condition characterised by Constant fìndings such as typical facial appearance… 
2006
2006
Colonic involvement in Stevens-Johnson syndrome
Severe gastrointestinal tract involvement is a rare manifestation of Stevens-Johnson syndrome (SJS). The case is described of a… 
Review
1987
Review
1987
Cost containment and the standard of medical care.
Rapid increases in health care costs have prompted business and government to impose cost containment measures that, in turn… 
Review
1984
Review
1984
Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis
We have reviewed the radiographic features of 19 patients with spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL). The… 
1983
1983
Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder.
A progressive and potentially lethal skeletal dysplasia, spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL), has been… 
1982
1982
Monitoring and modeling San Jose scale
san Jose scale, Quadraspidiotus perniciosus (Comstock), is one of the world’s most severe pests of deciduous fruits and nuts… 
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