Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees.
Bin YangXi WangWei ZhangHongjun LiBin-Bin WangPublished in: Molecular genetics & genomic medicine (2018)
Our study, in which compound heterozygous variants were identified in two pedigrees, provides more familial evidence that only recessive variants (homozygous or compound heterozygous) in CFTR cause CBAVD. Furthermore, whole exome sequencing may be utilized as a useful tool for mutation screening of genes causing CBAVD.