Prenatal
CFAP53
Prenatal diagnosis
laterality defects
molecular genetics
prenatal exome sequencing
Journal
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
ISSN: 1476-4954
Titre abrégé: J Matern Fetal Neonatal Med
Pays: England
ID NLM: 101136916
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
medline:
13
4
2023
entrez:
11
4
2023
pubmed:
12
4
2023
Statut:
ppublish
Résumé
Laterality defects include morphological anomalies with impaired left-right asymmetry induction, such as dextrocardia, situs inversus abdominis, situs inversus totalis and situs ambiguus. The different arrangement of major organs is called heterotaxy. We describe for the first time a fetus with situs viscerum inversus and azygos continuation of the inferior vena cava, due to previously unreported variants in compound heterozygosity in the
Identifiants
pubmed: 37041101
doi: 10.1080/14767058.2023.2201653
doi:
Substances chimiques
CFAP53 protein, human
0
Types de publication
Review
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM