Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
Rett syndrome
X inactivation mosaicism
early morphological neuronal biomarkers
genotype-phenotype correlation
hot-spot MECP2 pathogenic variants
iPSC-neurons
mature neuron e-recordings
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
21 Nov 2022
21 Nov 2022
Historique:
received:
11
10
2022
revised:
07
11
2022
accepted:
15
11
2022
entrez:
26
11
2022
pubmed:
27
11
2022
medline:
30
11
2022
Statut:
epublish
Résumé
Rett syndrome caused by
Identifiants
pubmed: 36430969
pii: ijms232214491
doi: 10.3390/ijms232214491
pmc: PMC9697612
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : AIRETT
ID : 08A_621 and 08A_801
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