Two novel deleterious variants of Angiotensin-I-converting Enzyme gene identified in a family with recurrent anhydramnios.

Jingwei WangQiao BinBiheng ChengLi YanLiang XiongBi-Hua TanMary McGrathGayle M Smink Chunhua SongYongqing Tong

Published in: Molecular genetics & genomic medicine (2020)

Two novel compound heterozygous variants were identified in the case with anhydramnios, which may be associated with pathogenicity of anhydramnios. Our data also revealed that the WES approach may provide helpful information for genetic counseling of the families with anhydramnios.

Keyphrases

copy number
genome wide
dna methylation
early onset
single cell
electronic health record
big data
smoking cessation
gene expression
health information
healthcare
angiotensin converting enzyme
machine learning
biofilm formation
artificial intelligence
transcription factor
pseudomonas aeruginosa
social media