Article

Oligogenic inheritance of congenital heart disease involving a NKX2-5 modifier

2018-02-20

Abstract excerpt

Complex genetic inheritance is thought to underlie many human diseases, yet experimental proof of this model has been elusive. Here, we show that a human congenital heart defect, left ventricular non-compaction (LVNC), can be caused by a combination of rare, inherited heterozygous missense single nucleotide variants. Whole exome sequencing of a nuclear family revealed novel single nucleotide variants of MYH7 and M...

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Literature Corpus work: 7ffe6b59-219d-578a-9ab5-8829f8ffdc9c
DOI: 10.1101/266726

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