Article
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
Journal of the National Cancer Institute - 7 May 2003
Wang Lisa L, Gannavarapu Anu, Kozinetz Claudia A, Levy Moise L, Lewis Richard A, Chintagumpala Murali M, Ruiz-Maldanado Ramon, Contreras-Ruiz Jose, Cunniff Christopher, Erickson Robert P, Lev Dorit, Rogers Maureen, Zackai Elaine H, Plon Sharon E
Abstract excerpt
BACKGROUND: Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes a RecQ DNA helicase, have been reported in a few RTS patients. We examined whether a predisposition to...
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