Human genes for Rothmund-Thomson syndrome
Rothmund-Thomson syndrome [DOID:2732]
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.
Synonyms: Rothmund-Thomson syndrome, DOID:2732, RothmundThomson syndrome, Rothmund-Thomson disease, Rothmund-Thomson disorder ...