De novo mosaic
MECP2 mutation
Rett syndrome
next‐generation sequencing
somatic mosaicism
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Feb 2019
Feb 2019
Historique:
received:
04
06
2018
revised:
30
10
2018
accepted:
11
12
2018
entrez:
9
3
2019
pubmed:
9
3
2019
medline:
9
3
2019
Statut:
epublish
Résumé
We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on
Identifiants
pubmed: 30847208
doi: 10.1002/ccr3.1985
pii: CCR31985
pmc: PMC6389470
doi:
Types de publication
Case Reports
Langues
eng
Pagination
366-370Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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