Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation
Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation
About this item
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Author / Creator
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group LTD
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Scope and Contents
Contents
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder with clinical features consisting of poikiloderma, skeletal abnormalities, sparse hair, absent or scanty eyelashes and eyebrows and short stature. Patients with RTS due to genetic mutations of RECQL4 genes carry a high risk of developing osteosarcoma during childhood. Because of...
Alternative Titles
Full title
Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5786930
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5786930
Other Identifiers
ISSN
1757-790X
E-ISSN
1757-790X
DOI
10.1136/bcr-2017-222384
