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)
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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