Prenatal risk assessment of Xp21.1 duplication involving the
Humans
Female
Male
Risk Assessment
/ methods
Pedigree
Pregnancy
Dystrophin
/ genetics
Prenatal Diagnosis
/ methods
Chromosome Mapping
/ methods
Chromosomes, Human, X
/ genetics
Muscular Dystrophy, Duchenne
/ genetics
Chromosome Duplication
/ genetics
Exons
/ genetics
Gene Duplication
/ genetics
Adult
Journal
Life science alliance
ISSN: 2575-1077
Titre abrégé: Life Sci Alliance
Pays: United States
ID NLM: 101728869
Informations de publication
Date de publication:
Nov 2024
Nov 2024
Historique:
received:
18
04
2024
revised:
01
08
2024
accepted:
01
08
2024
medline:
9
8
2024
pubmed:
9
8
2024
entrez:
8
8
2024
Statut:
epublish
Résumé
Structural variants (SVs) of unknown significance are great challenges for prenatal risk assessment, especially when involving dose-sensitive genes such as
Identifiants
pubmed: 39117454
pii: 7/11/e202402780
doi: 10.26508/lsa.202402780
pii:
doi:
Substances chimiques
DMD protein, human
0
Dystrophin
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 Zhang et al.