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Schwartz-Jampel syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
AR
HSPG2
LIFR
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
GSE29615_DAY3_VS_DAY7_LAIV_FLU_VACCINE_PBMC_UP
GSE3982_NKCELL_VS_TH1_UP
PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP
MODULE_63
KAYO_AGING_MUSCLE_UP
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Curated Studies
Most Correlated Studies
OMIM - Stuve-Wiedemann syndrome
OMIM - Congenital disorder
OMIM - Multisystem Complex Disorders
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Literature
Most Relevant Literature
Schwartz Jampel syndrome in children.
Schwartz-Jampel syndrome: a review of the literature and case report.
Schwartz-Jampel syndrome.
Multidisciplinary approach to the treatment of a patient with chondrodystrophic myotonia (Schwartz-J…
Botulinum toxin A injections for the treatment of Schwartz-Jampel syndrome: a case series.
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There were no clinical trials for Schwartz-Jampel syndrome
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