Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review
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Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Heterozygous loss-of-function
SMAD4
mutations are associated with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Some carriers exhibit symptoms of both conditions, leading to juvenile polyposis–hereditary hemorrhagic telangiectasia syndrome. Three families have been reported with connective tissue abnormalities. To bet...
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Full title
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review
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TN_cdi_proquest_miscellaneous_1680444217
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1680444217
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ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2014.5
