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ROTHMUND-THOMSON SYNDROME; RTS
(OMIM ID: #268400)

Known also as: RTS, POIKILODERMA ATROPHICANS AND CATARACT


Rothmund-Thomson syndrome is caused by compound heterozygous mutation in the DNA helicase gene RECQL4.
Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease.


DNA repair proteins related with ROTHMUND-THOMSON SYNDROME; RTS (#268400) disease:
Last modification of this entry: Oct. 11, 2010.

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