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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.
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has minor subject area list
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Female; Forkhead Transcription Factors; Humans; Infant; Infant, Newborn; Lung; Mosaicism; Mouth Mucosa; Sequence Deletion
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information resource reference
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Yildiz B?l?kbasi E, Karolak JA, Szafranski P, Gambin T, Willard N, Abman SH, Galambos C, Kinsella JP, Stankiewicz P. 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. Mol Genet Genomic Med. 2022 11; 10(11):e2062.
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label
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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.
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