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Klippel-Feil syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
GDF6
GDF3
MEOX1
MYO18B
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
TGF-beta, propeptide
Transforming growth factor-beta-related
Transforming growth factor beta, conserved site
Transforming growth factor-beta, C-terminal
Cystine-knot cytokine
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Curated Studies
Most Correlated Studies
OMIM - Disorder of musculoskeletal system
OMIM - Congenital disorder
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Literature
Most Relevant Literature
A case of Klippel-Feil and Turner syndromes.
Management of Klippel-Feil syndrome combined with Turner syndrome: a case report.
Klippel-Feil syndrome in a boy exposed inadvertently to cyclophosphamide during pregnancy: a case re…
Duplication of the mandible in Klippel-Feil syndrome.
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
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Clinical Trials
Most Relevant Clinical Trials
Airway Management of Pediatric Patients With Klippel-Feil Syndrome
Interbody Fusion Devices in the Treatment of Cervicobrachial Syndrome
Effect of Cervical Stabilization and Oculomotor Exercises on Position Sense With Chronic Neck Pain
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Study Using the CervicalStim Device Following Cervical Fusion
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