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.

Autor: Yıldız Bölükbaşı, Esra1 (AUTHOR), Karolak, Justyna A.2 (AUTHOR), Szafranski, Przemyslaw1 (AUTHOR), Gambin, Tomasz3 (AUTHOR), Willard, Nicholas4 (AUTHOR), Abman, Steven H.5 (AUTHOR), Galambos, Csaba4,5 (AUTHOR), Kinsella, John P.5 (AUTHOR), Stankiewicz, Paweł1 (AUTHOR) pawels@bcm.edu
Zdroj: Molecular Genetics & Genomic Medicine. Nov2022, Vol. 10 Issue 11, p1-9. 9p.
Databáze: Academic Search Ultimate
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