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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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Principais autores: Lin Cheng, Fan Yang, Xinlin Chen, Jiawei Kang, Jiafu Li, Yuanzhen Zhang, Juan Liu, Jin Li, Jianhong Ma, Jie Duan
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2022-08-01
Serier:Frontiers in Genetics
Fag:
matrix metalloproteinase 9 gene
absence of fibula
short femur length
prenatal diagnosis
metaphyseal anadysplasia type 2
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2022.938457/full
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