Multifaceted and Age-Dependent Phenotypes Associated With Biallelic
Boucher Neuhauser syndrome
Gordon Holmes syndrome
Oliver Mc Farlane syndrome
cerebellar ataxia
chorioretinal dystrophy
hypogonadotropic hypogonadism
spastic paraplegia
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2021
2021
Historique:
received:
12
10
2021
accepted:
02
12
2021
entrez:
24
1
2022
pubmed:
25
1
2022
medline:
25
1
2022
Statut:
epublish
Résumé
A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the
Identifiants
pubmed: 35069422
doi: 10.3389/fneur.2021.793547
pmc: PMC8770815
doi:
Types de publication
Journal Article
Langues
eng
Pagination
793547Informations de copyright
Copyright © 2022 Nanetti, Di Bella, Magri, Fichera, Sarto, Castaldo, Mongelli, Baratta, Fenu, Moscatelli, Bonati, Martinuzzi, Mariotti and Taroni.
Déclaration de conflit d'intérêts
The 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.
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