Heterozygous
COL17A1
Collagen XVII
amelogenesis imperfecta
junctional epidermolysis bullosa
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
18 Nov 2023
18 Nov 2023
Historique:
received:
13
07
2023
accepted:
17
10
2023
medline:
19
11
2023
pubmed:
19
11
2023
entrez:
18
11
2023
Statut:
aheadofprint
Résumé
Collagen XVII is most typically associated with human disease when biallelic Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic These results indicate that
Sections du résumé
BACKGROUND
BACKGROUND
Collagen XVII is most typically associated with human disease when biallelic
METHODS
METHODS
Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for
RESULTS
RESULTS
Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic
CONCLUSION
CONCLUSIONS
These results indicate that
Identifiants
pubmed: 37979963
pii: jmg-2023-109510
doi: 10.1136/jmg-2023-109510
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.