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...

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Detalles Bibliográficos
Autores principales: Li, Fang, Yu, Miao, Fan, Zhuangzhuang, Wu, Junyi, Tian, Hua, Feng, Hailan, Liu, Yang, Liu, Haochen, Han, Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Physiology
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

Internet

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

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