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Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

✍ Scribed by Wang, Lisa L. ;Levy, Moise L. ;Lewis, Richard A. ;Chintagumpala, Murali M. ;Lev, Dorit ;Rogers, Maureen ;Plon, Sharon E.

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
290 KB
Volume
102
Category
Article
ISSN
0148-7299

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## Abstract Rothmund–Thomson syndrome (RTS) (OMIM 268400) is an autosomal recessive genodermatosis associated with genomic instability and increased risk of mesenchymal cancers. Mutations in the __RECQL4__ gene, encoding a protein of the family of Werner (__WRN__) and Bloom (__BLM__) helicases, hav