A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome
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Publisher
Dordrecht: Springer Netherlands
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Language
English
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Publisher
Dordrecht: Springer Netherlands
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Scope and Contents
Contents
Rothmund-Thomson syndrome, a heterogeneous genodermatosis with autosomal recessive hereditary pattern, is an uncommon cancer susceptibility genetic syndrome. To date, only 400 cases have been reported in the literature, and the severity of the features varies among individuals with the condition. Here, we describe a 55-year-old male who had been di...
Alternative Titles
Full title
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome
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Record Identifier
TN_cdi_proquest_journals_2762550693
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2762550693
Other Identifiers
ISSN
1389-9600,1573-7292
E-ISSN
1573-7292
DOI
10.1007/s10689-022-00303-2
