article_metadata: Xiaohui Fu Shuli Chen Xiao Huang Qinghua Lu Yunfei Cui Weinan Lin Qin Yang
article_metadata: 10.3389/fendo.2024.1345067
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2024 Mar 13:15:1345067.
article_metadata: mtx2 gene exon skipping mandibular hypoplasia (mad) syndrome progeria syndrome splice-site mutation
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38544690/
article_metadata: Lipodystrophy / genetics Progeria / complications Progeria / diagnosis Progeria / genetics
article_metadata: Lipodystrophy / genetics Progeria / complications Progeria / diagnosis Progeria / genetics Review Case Reports Female Growth Disorders / complications Humans Mutation Rare Diseases Syndrome
article_metadata: PMC10965776
article_metadata: 38544690
article_metadata: Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
article_metadata: 2024