Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the...
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
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Author / Creator
Musolf, Anthony M. , Justice, Cristina M. , Erdogan-Yildirim, Zeynep , Goovaerts, Seppe , Cuellar, Araceli , Shaffer, John R. , Marazita, Mary L. , Claes, Peter , Weinberg, Seth M. , Li, Jae , Senders, Craig , Zwienenberg, Marike , Simeonov, Emil , Kaneva, Radka , Roscioli, Tony , Di Pietro, Lorena , Barba, Marta , Lattanzi, Wanda , Cunningham, Michael L. , Romitti, Paul A. and Boyadjiev, Simeon A.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Craniosynostosis (CS) is a major birth defect resulting from premature fusion of cranial sutures. Nonsyndromic CS occurs more frequently than syndromic CS, with sagittal nonsyndromic craniosynostosis (sNCS) presenting as the most common CS phenotype. Previous genome-wide association and targeted sequencing analyses of sNCS have identified multiple...
Alternative Titles
Full title
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428
Authors, Artists and Contributors
Author / Creator
Justice, Cristina M.
Erdogan-Yildirim, Zeynep
Goovaerts, Seppe
Cuellar, Araceli
Shaffer, John R.
Marazita, Mary L.
Claes, Peter
Weinberg, Seth M.
Li, Jae
Senders, Craig
Zwienenberg, Marike
Simeonov, Emil
Kaneva, Radka
Roscioli, Tony
Di Pietro, Lorena
Barba, Marta
Lattanzi, Wanda
Cunningham, Michael L.
Romitti, Paul A.
Boyadjiev, Simeon A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_f648374bc2b0416ab9f8c6846eee6350
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f648374bc2b0416ab9f8c6846eee6350
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-58343-w