Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

BackgroundMandibuloacral dysplasia (MAD) syndrome is a rare genetic disease. Several progeroid syndromes including mandibuloacral dysplasia type A (MADA), mandibuloacral dysplasia type B(MADB), Hutchinson-Gilford progeria (HGPS) and mandibular hypoplasia, deafness, and lipodystrophy syndrome (MDPL)...

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Bibliographic Details
Main Authors: Xiaohui Fu, Shuli Chen, Xiao Huang, Qinghua Lu, Yunfei Cui, Weinan Lin, Qin Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Endocrinology
Subjects:
MTX2 gene
mandibular hypoplasia (MAD) syndrome
progeria syndrome
splice-site mutation
exon skipping
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1345067/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2024.1345067/full

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