Cargando…
Rare compound heterozygous variants of LAMB3 and histological features of enamel and oral mucosa
Junctional epidermolysis bullosa (JEB) is a group of autosomal recessive disorders characterized by amelogenesis imperfecta (AI) and fragility of the skin and mucous membranes. The purpose of this study was to identify pathogenic gene variants and investigate the phenotypic characteristics of abnorm...
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589216/ https://www.ncbi.nlm.nih.gov/pubmed/36299258 http://dx.doi.org/10.3389/fphys.2022.1006980 |