Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
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Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Rare heterozygous variants in
SMAD6
have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on one hand and non-syndromic midline craniosynostosis on the other. In this study, we report two individuals with biallelic missense variants in
SMAD6
and a complex cardiac phenotype...
Alternative Titles
Full title
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_2206226975
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2206226975
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-019-02011-x
