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Results 1 - 2 of 2 for "Rothmund-Thomson" syndrome
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  1. RECQL4 gene 
    ... RECQL4 gene have been found in people with Rothmund-Thomson syndrome. These mutations likely prevent the production of any ... these changes result in the characteristic features of Rothmund-Thomson syndrome, which include a skin rash, sparse hair, small ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  2. USB1 gene 
    ... patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22): ...
    https://medlineplus.gov/genetics/gene/usb1 - Genetics