Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis

Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in skin. Whole-exome sequencing (WES) was used to investigate two Chinese siblings with suggestive clinical features of LP. They shared one known (c.9...

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Detalles Bibliográficos
Autores principales: Xu, Mengjun, Zhou, Jiong, Yan, Jianliang, Wang, Jianyou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277017/
https://www.ncbi.nlm.nih.gov/pubmed/37337569
http://dx.doi.org/10.2147/CCID.S415682

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277017/
https://www.ncbi.nlm.nih.gov/pubmed/37337569
http://dx.doi.org/10.2147/CCID.S415682

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