Prenatal Detection of a
16q24.1
alveolar capillary dysplasia
genome sequencing
hydronephrosis
lethal lung developmental disorder
prenatal diagnosis
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
23 02 2023
23 02 2023
Historique:
received:
12
01
2023
revised:
08
02
2023
accepted:
21
02
2023
medline:
30
3
2023
entrez:
29
3
2023
pubmed:
30
3
2023
Statut:
epublish
Résumé
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 or copy-number variant (CNV) deletions involving the
Identifiants
pubmed: 36980834
pii: genes14030563
doi: 10.3390/genes14030563
pmc: PMC10048226
pii:
doi:
Substances chimiques
Forkhead Transcription Factors
0
FOXF1 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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