Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report

Introduction: Epidermolysis bullosa (EB) is a skin fragility disorder that is caused by molecular aberrations in the epidermal basement membrane zone. Based primarily on the cleavage plane within the skin, EB is classified into four major subtypes: EB simplex; junctional EB (JEB); dystrophic EB; and...

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Detalles Bibliográficos
Autores principales: Wang, Wei, Guo, Qiang, Chen, Jinshan, Zhang, Xi, Li, Chengyong, Li, Shuangping, Liang, Jialin, Hao, Chuan, Wang, Jingqi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561087/
https://www.ncbi.nlm.nih.gov/pubmed/36246619
http://dx.doi.org/10.3389/fgene.2022.965375

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561087/
https://www.ncbi.nlm.nih.gov/pubmed/36246619
http://dx.doi.org/10.3389/fgene.2022.965375

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