Article

Striking Cardiac Phenotypic Variability in A Chinese Family With A MYH7 Splice Site Mutation

2021-03-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect (CHD), genetics defects have been found in patients with LVNC and their family members; and MYH7 is the most common genetic associated with LVNC. <bold>Methods:</bold> A trio (fetus and the parents) whole-exome sequencing (WES) was performed when the fetus was found with Ebst...

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Literature Corpus work: 78a546d7-5097-5773-ba8f-7e6f3e9142e8
DOI: 10.21203/rs.3.rs-273275/v1

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