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    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

    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 by Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Steven H. Abman, Csaba Galambos, John P. Kinsella, Paweł Stankiewicz

    Published 2022-11-01
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