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To diagnose progeria, a physician typically conducts a thorough medical history review and physical examination, followed by genetic testing to identify mutations in the LMNA gene, which is responsible for the condition. Additionally, imaging tests, such as X-rays or MRIs, may be used to assess any skeletal abnormalities associated with progeria. A multidisciplinary team may also evaluate growth patterns and other clinical signs to support the diagnosis.

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1w ago

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