Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a
Genetic counselling
Mosacism
Tuberous sclerosis
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
14
08
2020
accepted:
24
11
2020
entrez:
28
6
2021
pubmed:
29
6
2021
medline:
29
6
2021
Statut:
ppublish
Résumé
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that displays a wide spectrum of clinical manifestations, often affecting multiple organs including the kidneys, brain, lungs, and skin. A pathogenic mutation in either the
Identifiants
pubmed: 34177431
doi: 10.1159/000513326
pii: msy-0012-0154
pmc: PMC8215990
doi:
Types de publication
Case Reports
Langues
eng
Pagination
154-158Informations de copyright
Copyright © 2021 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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