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Seung Hyo Kim (Kim SH)

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Case Report

A case of Rothmund-Thomson syndrome

Seung Hyo Kim, Choong Ho Shin, Sei Won Yang

Clin Exp Pediatr. 2006;49(5):565-569. Published online May 15, 2006

Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by : skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities include : dysplasia, absent or malformed bones, such as absent radii, osteopenia, and delayed bone formation. RTS is thought to result from chromosomal instability, and children with RTS...

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