Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report.
arthrogryposis multiplex congenita
mrna export
mutation
splice
thoc2
x linked recessive
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
accepted:
17
11
2021
entrez:
3
1
2022
pubmed:
4
1
2022
medline:
4
1
2022
Statut:
epublish
Résumé
The
Identifiants
pubmed: 34976470
doi: 10.7759/cureus.19682
pmc: PMC8681921
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e19682Informations de copyright
Copyright © 2021, Tamhankar et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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