NGS
amelogenesis imperfecta
enamel
genetics
next-generation sequencing
rare diseases
Journal
Frontiers in physiology
ISSN: 1664-042X
Titre abrégé: Front Physiol
Pays: Switzerland
ID NLM: 101549006
Informations de publication
Date de publication:
2023
2023
Historique:
received:
22
12
2022
accepted:
06
03
2023
medline:
25
5
2023
pubmed:
25
5
2023
entrez:
25
5
2023
Statut:
epublish
Résumé
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature and serve as a basis, together with the mode of inheritance, to Witkop's classification (Witkop, J Oral Pathol, 1988, 17, 547-553). AI can be described in isolation or associated with others symptoms in syndromes. Its occurrence was estimated to range from 1/700 to 1/14,000. More than 70 genes have currently been identified as causative.
Identifiants
pubmed: 37228816
doi: 10.3389/fphys.2023.1130175
pii: 1130175
pmc: PMC10205041
doi:
Banques de données
ClinicalTrials.gov
['NCT02397824', 'NCT01746121']
Types de publication
Journal Article
Langues
eng
Pagination
1130175Informations de copyright
Copyright © 2023 Bloch-Zupan, Rey, Jimenez-Armijo, Kawczynski, Kharouf, O-Rare consortium, Dure-Molla, Noirrit, Hernandez, Joseph-Beaudin, Lopez, Tardieu, Thivichon-Prince, ERN Cranio Consortium, Dostalova, Macek, International Consortium, Alloussi, Qebibo, Morkmued, Pungchanchaikul, Orellana, Manière, Gérard, Bugueno and Laugel-Haushalter.
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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