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pfeiffer syndrome
(phenotype)
Summary
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
FGFR1
FGFR2
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
Fibroblast growth factor receptor family
neuronal stem cell division
REACTOME_FGFR_LIGAND_BINDING_AND_ACTIVATION
REACTOME_SHC_MEDIATED_CASCADE
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Craniosynostosis
OMIM - Congenital disorder
Cancer Gene Census - mutations in cancer genes
OMIM - Congenital anomaly of digit
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Literature
Most Relevant Literature
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
Pfeiffer syndrome: analysis of a clinical series and development of a classification system.
Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.
Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of pfei…
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating…
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Clinical Trials
Most Relevant Clinical Trials
Effects of Short-term Interventions for a Healthy Lifestyle on the Human Lipidome in Subjects With M…
Protein, Fiber, and Metabolic Syndrome - The PROFIMET Study
Invasive vs Conservative Strategies in Non-ST-elevation Acute Coronary Syndrome and Comorbidities
Effects of (1,3), (1,6)-Beta-D-glucan on Insulin Sensitivity and Inflammatory Markers of the Metabol…
Craniosynostosis :Surgical Treatment Modalities and Outcome
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