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
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

1435493

Informations 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.

Auteurs

Artem Borovikov (A)

Research Centre for Medical Genetics, Moscow, Russia.

Andrey Marakhonov (A)

Research Centre for Medical Genetics, Moscow, Russia.

Aysylu Murtazina (A)

Research Centre for Medical Genetics, Moscow, Russia.

Kseniya Davydenko (K)

Research Centre for Medical Genetics, Moscow, Russia.

Alexandra Filatova (A)

Research Centre for Medical Genetics, Moscow, Russia.

Nailya Galeeva (N)

Research Centre for Medical Genetics, Moscow, Russia.

Varvara Kadnikova (V)

Research Centre for Medical Genetics, Moscow, Russia.

Natalya Ogorodova (N)

Research Centre for Medical Genetics, Moscow, Russia.

Daria Gorodilova (D)

Research Centre for Medical Genetics, Moscow, Russia.

Ilya Kanivets (I)

Genomed, Moscow, Russia.
Federal State Budgetary Educational Institution, Further Professional Education, Russian Medical Academy of Continuous Professional Education, Ministry of Healthcare of the Russian Federation, Moscow, Russia.

Denis Pyankov (D)

Genomed, Moscow, Russia.

Konstantin Zherdev (K)

National Medical Research Center of Children's Health, Moscow, Russia.
Department of Pediatric Surgery and Urology-Andrology, I. M. Sechenov First Moscow State Medical University, Moscow, Russia.

Aleksandr Petel'guzov (A)

National Medical Research Center of Children's Health, Moscow, Russia.

Pavel Zubkov (P)

National Medical Research Center of Children's Health, Moscow, Russia.

Alexander Polyakov (A)

Research Centre for Medical Genetics, Moscow, Russia.

Olga Shchagina (O)

Research Centre for Medical Genetics, Moscow, Russia.

Mikhail Skoblov (M)

Research Centre for Medical Genetics, Moscow, Russia.

Classifications MeSH