Case Report: Novel Biallelic Variants in
DNAJC21 gene
Shwachman–Diamond syndrome
bone marrow failure syndrome
ribosomopathy
telomeres
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
06
02
2022
accepted:
28
02
2022
entrez:
25
4
2022
pubmed:
26
4
2022
medline:
26
4
2022
Statut:
epublish
Résumé
Bone marrow failure represents an umbrella diagnosis for several life-threatening disorders. In many people, the etiology remains unknown for a long time, leading to an odyssey to diagnosis, with numerous tests performed and sometimes inappropriate treatment. Biallelic pathogenic variants in the
Identifiants
pubmed: 35464845
doi: 10.3389/fgene.2022.870233
pii: 870233
pmc: PMC9023866
doi:
Types de publication
Case Reports
Langues
eng
Pagination
870233Commentaires et corrections
Type : ErratumIn
Informations de copyright
Copyright © 2022 Chirita-Emandi, Petrescu, Zimbru, Stoica, Marian, Ciubotaru, Bataneant and Puiu.
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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