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◆ Clinical genetics2026-08-20

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Brady A Slater, Emily Muth, Naomi J L Meeks

原始摘要(英文原文)· Original abstract
This research letter expands the phenotypic spectrum of ACTG2-associated autosomal dominant visceral myopathy to include isolated uterine involvement based on a case of an individual harboring a known pathogenic ACTG2 variant with uterine atony as her only symptom.
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The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy. — 科研速览 Science Skim