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osteochondrodysplasia
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Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
SOST
CHST11
MSX2
RUNX2
LRP5
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Pathway Enrichment
Most Correlated Biogroups
embryonic appendage morphogenesis
limb morphogenesis
ossification
connective tissue development
cartilage development
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Curated Studies
Most Correlated Studies
Calvaria with Axin2 knockout and heterozygous Runx2
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) study
Mouse Phenotypes - Metabolic disease
Mouse Phenotypes - Albers-Schonberg disease
Mouse Phenotypes - Dwarfism
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Literature
Most Relevant Literature
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders i…
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotra…
A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of B…
Fibronectin isoforms in skeletal development and associated disorders.
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Clinical Trials
Most Relevant Clinical Trials
Early Surgical Intervention of Congenital Hemivertebra in Young Children
Morquio's Syndrome: a Case Study
Gait Analysis in MPS IVA
Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenp…
Double Osteotomy for Deformity Correction in Pyle Disease
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