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Beare-Stevenson cutis gyrata syndrome
Summary
- Definition
- A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0050660
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
