NODAL variants are associated with a continuum of laterality defects from simple D-transposition of...
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
About this item
Full title
Author / Creator
Dardas, Zain , Fatih, Jawid M. , Jolly, Angad , Dawood, Moez , Du, Haowei , Grochowski, Christopher M. , Jones, Edward G. , Jhangiani, Shalini N. , Wehrens, Xander H. T. , Liu, Pengfei , Bi, Weimin , Boerwinkle, Eric , Posey, Jennifer E. , Muzny, Donna M. , Gibbs, Richard A. , Lupski, James R. , Coban-Akdemir, Zeynep and Morris, Shaine A.
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve genetic diagnosis, the study aims to identify and cha...
Alternative Titles
Full title
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
Authors, Artists and Contributors
Author / Creator
Fatih, Jawid M.
Jolly, Angad
Dawood, Moez
Du, Haowei
Grochowski, Christopher M.
Jones, Edward G.
Jhangiani, Shalini N.
Wehrens, Xander H. T.
Liu, Pengfei
Bi, Weimin
Boerwinkle, Eric
Posey, Jennifer E.
Muzny, Donna M.
Gibbs, Richard A.
Lupski, James R.
Coban-Akdemir, Zeynep
Morris, Shaine A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_732bd51decf14dba8374c1b62dec21e8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_732bd51decf14dba8374c1b62dec21e8
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-024-01312-9
