Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2

Matrix metalloproteinase 9 (MMP9) is an important member of the matrix metalloproteinase family and plays a key role in balancing extracellular matrix proteins. Studies have shown that the homozygous mutations in MMP9 can lead to metaphyseal anadysplasia type 2 (MANDP2, OMIM#613073). The clinical ph...

Descripción completa

Detalles Bibliográficos
Autores principales: Cheng, Lin, Yang, Fan, Chen, Xinlin, Kang, Jiawei, Li, Jiafu, Zhang, Yuanzhen, Liu, Juan, Li, Jin, Ma, Jianhong, Duan, Jie
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/PMC9411662/
https://www.ncbi.nlm.nih.gov/pubmed/36035187
http://dx.doi.org/10.3389/fgene.2022.938457

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411662/
https://www.ncbi.nlm.nih.gov/pubmed/36035187
http://dx.doi.org/10.3389/fgene.2022.938457

Ejemplares similares