Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Mohamed H Al-HamedNada AlsahanHuda I Tulbah Wesam KurdiWafa'a AliJohn Andrew SayerFaiqa Imtiaz

Published in: Genes (2020)

This study provides confirmation that TMEM94 variants may cause IDDCDF. For the first time we describe the pathogenicity of TMEM94 defects detected during the prenatal period.

Keyphrases

copy number
pregnant women
gene expression
biofilm formation
pseudomonas aeruginosa