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Rothmund-Thomson syndrome
Summary
- Synonym
-
- Congenital poikiloderma
- RTS
- Definition
- A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
- Super Class
- skin disease
External Links
- Disease Ontology
- DOID:2732
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
