Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

March 2024 in “ Frontiers in endocrinology ”

Xiaohui Fu, Shuli Chen, Heng Xiao, Qinghua Lu, Yunfu Cui, Wencheng Lin, Qin Yang

mandibuloacral dysplasia progeroid syndrome MTX2 gene lipodystrophy skeletal malformations genetic analysis homozygous mutation truncated protein progeroid syndromes

Studysummary This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer ·

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