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Rothmund-Thomson syndrome (RTS)

Rothmund-Thomson syndrome are caused by compound heterozygous mutation in the DNA helicase gene RECQL4 (603780) on chromosome 8q24.3. 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.

OTHER NAME(S): POIKILODERMA ATROPHICANS AND CATARACT

ABREVIATION(S):
RTS

TYPE: telangiectasia, premature aging, skeletal abnormalities, risk of malignant disease, skin problem

DNAtraffic protein(s) related to disease: RECQL4 (RTS)

OMIM: 268400

Last modification date: Oct. 4, 2011