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Antley-Bixler syndrome without disordered steroidogenesis
Summary
- Definition
- An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.
- Super Class
- Antley-Bixler syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081290
- Mondo Disease Ontology
- OMIM
Related Genes
