Cargando…

Prenatal Detection of a FOXF1 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...

Descripción completa

Detalles Bibliográficos
Autores principales: Bzdęga, Katarzyna, Kutkowska-Kaźmierczak, Anna, Deutsch, Gail H., Plaskota, Izabela, Smyk, Marta, Niemiec, Magdalena, Barczyk, Artur, Obersztyn, Ewa, Modzelewski, Jan, Lipska, Iwona, Stankiewicz, Paweł, Gajecka, Marzena, Rydzanicz, Małgorzata, Płoski, Rafał, Szczapa, Tomasz, Karolak, Justyna A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048226/
https://www.ncbi.nlm.nih.gov/pubmed/36980834
http://dx.doi.org/10.3390/genes14030563