Cases report: Mosaic structural variants of the
EXT1
EXT2
exostosis
genome sequencing
mosaic deletion
multiple osteochondromas
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2024
2024
Historique:
received:
20
05
2024
accepted:
26
07
2024
medline:
28
8
2024
pubmed:
28
8
2024
entrez:
28
8
2024
Statut:
epublish
Résumé
Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the
Identifiants
pubmed: 39192890
doi: 10.3389/fgene.2024.1435493
pii: 1435493
pmc: PMC11347319
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
1435493Informations de copyright
Copyright © 2024 Borovikov, Marakhonov, Murtazina, Davydenko, Filatova, Galeeva, Kadnikova, Ogorodova, Gorodilova, Kanivets, Pyankov, Zherdev, Petel’guzov, Zubkov, Polyakov, Shchagina and Skoblov.
Déclaration de conflit d'intérêts
IK and DP were employed by LTD Genomed. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.