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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Bibliographic Details

Published in:	Frontiers in Physiology
Main Authors:	Fang Li, Miao Yu, Zhuangzhuang Fan, Junyi Wu, Hua Tian, Hailan Feng, Yang Liu, Haochen Liu, Dong Han
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-10-01
Subjects:	junctional epidermolysis bullosa amelogenesis imperfecta LAMB3 whole-exome sequencing oral mucosa
Online Access:	https://www.frontiersin.org/articles/10.3389/fphys.2022.1006980/full