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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...

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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

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