Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with
Abortion, Induced
Chromosomes, Human, Pair 10
/ genetics
Female
Humans
Male
Malformations of Cortical Development
/ diagnostic imaging
Megalencephaly
/ diagnostic imaging
Mosaicism
Mutation
PTEN Phosphohydrolase
/ genetics
Paternal Inheritance
Polymorphism, Single Nucleotide
Pregnancy
Pregnancy Trimester, Second
Trisomy
/ genetics
Uniparental Disomy
/ genetics
BAF
PTEN
SNP
cortical dysplasia
fetus
megalencephaly
microarray
mosaicism
uniparental disomy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
02 03 2021
02 03 2021
Historique:
received:
05
02
2021
revised:
27
02
2021
accepted:
28
02
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
4
8
2021
Statut:
epublish
Résumé
The phosphatase and tensin homolog (
Identifiants
pubmed: 33801456
pii: genes12030358
doi: 10.3390/genes12030358
pmc: PMC7999901
pii:
doi:
Substances chimiques
PTEN Phosphohydrolase
EC 3.1.3.67
PTEN protein, human
EC 3.1.3.67
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
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