Whole exome sequencing reveals a monogenic cause in 57% of individuals with laterality disorders and associated congenital heart defects

EUROPEAN JOURNAL OF HUMAN GENETICS(2022)

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摘要
Our findings contribute to the current knowledge regarding monogenic causes of heterotaxy and its associated congenital heart defects and underscore the role of next-generation sequencing techniques in the diagnostic workup of such patients, and especially among consanguineous families.
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关键词
Hereditary,and neonatal diseases and abnormalities,congenital,heart defects
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