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◆ American journal of medical genetics. Part C, Seminars in medical genetics2026-08-28

I Breathed.

Patti M Schultz

原始摘要(英文原文)· Original abstract
Five years ago, at the age of 50, I received the diagnosis of Myhre Syndrome. A lifelong search for answers finally had a name. I thought getting this information would give me a clear treatment plan and prognosis. I was wrong. Instead, out of around 200 people worldwide, I became one of the oldest known with Myhre. I had more questions than answers.
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I Breathed. — 科研速览 Science Skim