NODAL Variants Are Associated with a Continuum of Laterality Defects from Simple D-transposition of the Great Arteries to Heterotaxy

Zain Dardas,Jawid M. Fatih,Angad Jolly,Moez Dawood,Haowei Du,Christopher M. Grochowski,Edward G. Jones,Shalini N. Jhangiani,Xander H. T. Wehrens,Pengfei Liu,Weimin Bi,Eric Boerwinkle,Jennifer E. Posey,Donna M. Muzny,Richard A. Gibbs,James R. Lupski,Zeynep Coban-Akdemir,Shaine A. Morris

GENOME MEDICINE（2024）

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关键词

Congenital heart disease,NODAL,Laterality defects,Heterotaxy,Transposition,Single ventricle,Genetic diagnosis,Structural variation

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