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dysostosis
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
ZMPSTE24
MESP2
MSX2
LFNG
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Pathway Enrichment
Most Correlated Biogroups
embryonic appendage morphogenesis
stem cell differentiation
limb morphogenesis
osteoblast differentiation
ossification
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Curated Studies
Most Correlated Studies
Chondrocyte gene expression in two mouse models of metaplasia chondrodysplasia
Skin fibroblasts of Schimke immuno-osseous dysplasia cell lines with SMARCAL1 mutations
Calvaria with Axin2 knockout and heterozygous Runx2
Bone marrow mononuclear cells of Schwachman-Diamond patients with mutant SBDS
Mouse Phenotypes - Epiphyseal dysplasia
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Literature
Most Relevant Literature
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case re…
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a nove…
Prenatal features of mandibulofacial dysostosis Guion-Almeida Type.
A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial …
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Clinical Trials
Most Relevant Clinical Trials
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Cleidocranial Dysplasia (CCD): From Genotype to Phenotype and Considerations for Care
New Maxillary Expansion Technique in Adults
Superficial Cervical Plexus Block for Orthognathic Surgery
Bone Reconstruction of the Skull Using a Metal Ceramic Implant After Previously Failed Reconstructio…
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