Spectrum of
human genetics
molecular medicine
mutation
neurodegenerative diseases
neurology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
03 Oct 2023
03 Oct 2023
Historique:
received:
23
05
2023
accepted:
10
09
2023
medline:
4
10
2023
pubmed:
4
10
2023
entrez:
3
10
2023
Statut:
aheadofprint
Résumé
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in To further our understanding of the pathogenesis of CHS, we conducted clinical evaluations on individuals with CHS enrolled in our natural history study. Using genomic DNA Sanger sequencing, we identified novel pathogenic Our investigation unveiled 11 novel pathogenic The identification of novel pathogenic
Identifiants
pubmed: 37788905
pii: jmg-2023-109420
doi: 10.1136/jmg-2023-109420
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.