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Rothmund-Thomson syndrome

29 Jan 2010

Abstract excerpt

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the literature so far. The...

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PMID: 20113479
DOI: 10.1186/1750-1172-5-2

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