Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa

RATIONALE: Epidermolysis bullosa (EB) refers to a group of rare inherited mechanobullous disorders that present with great clinical and genetic heterogeneity. Its severity ranges from mild blistering to life-threatening. However, the clinical symptoms of different types of EB overlap significantly,...

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Detalles Bibliográficos
Autores principales: Wang, Hairong, Yang, Yun, Zhou, Jieqiong, Cao, Jiangxia, He, Xuelian, Li, Long, Gao, Shuyang, Mao, Bing, Tian, Ping, Zhou, Aifen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310585/
https://www.ncbi.nlm.nih.gov/pubmed/30544381
http://dx.doi.org/10.1097/MD.0000000000013225

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