Article
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.
Human molecular genetics - 15 Aug 2017
Cao Felicia, Lu Linchao, Abrams Steven A, Hawthorne Keli M, Tam Allison, Jin Weidong, Dawson Brian, Shypailo Roman, Liu Hao, Lee Brendan, Nagamani Sandesh C S, Wang Lisa L
Abstract excerpt
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone disease in RTS. Furthermore, the mechanisms that result in this phenotype are largely unknown. In this...
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