「通常診斷出一個罕見疾病,要經歷過15個醫生,被誤診3次。即使是專精罕病領域的醫師也不一定能馬上做出正確的診斷,因為他可能這一輩子都沒看過這個疾病。」蔡輔仁說出當時的困境,「不過還好台灣的遺傳領域都很 …
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