High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.

Esra Yıldız-Bölükbaşı Justyna A Karolak Przemyslaw Szafranski Tomasz Gambin Nicholas Willard Steven H Abman Csaba Galambos John P Kinsella Przemyslaw Szafranski

Published in: Molecular genetics & genomic medicine (2022)

Our data further demonstrate the importance of parental testing in ACDMPV families and reproductive usefulness of IVF with PGT in families with high-level parental gonosomal mosaicism.

Keyphrases

electronic health record
transcription factor
big data
binding protein
pregnancy outcomes
pregnant women