Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis

Prenatal Detection of a <i>FOXF1</i> Deletion in a Fetus with ACDMPV and Hydronephrosis

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hypertension. Heterozygous single-nucleotide variants o...

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Bibliographic Details
Main Authors: Katarzyna Bzdęga, Anna Kutkowska-Kaźmierczak, Gail H. Deutsch, Izabela Plaskota, Marta Smyk, Magdalena Niemiec, Artur Barczyk, Ewa Obersztyn, Jan Modzelewski, Iwona Lipska, Paweł Stankiewicz, Marzena Gajecka, Małgorzata Rydzanicz, Rafał Płoski, Tomasz Szczapa, Justyna A. Karolak
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Genes
Subjects:
lethal lung developmental disorder
hydronephrosis
alveolar capillary dysplasia
16q24.1
prenatal diagnosis
genome sequencing
Online Access:https://www.mdpi.com/2073-4425/14/3/563

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https://www.mdpi.com/2073-4425/14/3/563

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