Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in
Bruck syndrome type 2
PLOD2 gene
immunohistochemistry detection
osteogenesis imperfecta
whole-exome sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
21
10
2020
accepted:
28
01
2021
entrez:
5
3
2021
pubmed:
6
3
2021
medline:
6
3
2021
Statut:
epublish
Résumé
Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in
Identifiants
pubmed: 33664768
doi: 10.3389/fgene.2021.619948
pmc: PMC7921790
doi:
Types de publication
Case Reports
Langues
eng
Pagination
619948Informations de copyright
Copyright © 2021 Zhang, Hu, Mu, Yu, Chen, Mi, Yang and Guo.
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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