Article
Differences in genetic characteristics between Chinese and non-Chinese patients with pulmonary alveolar microlithiasis-case series and a systematic review.
Therapeutic advances in respiratory disease - 1 Jan 2025
Guo Mengyao, Hua Lijuan, Bai Wenxue, Wang Xuezhao, Wang Dongyuan, Chen Lirong, Liu Bingyi, Xie Min
Abstract excerpt
BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder caused by SLC34A2 variants, characterized by diffuse alveolar calcium phosphate deposits. While the SLC34A2 mutation spectrum has been well-documented, the distinct variant landscape in Chinese patients remains unclear. OBJECTIVES: This study aims to report three newly identified PAM cases and describe the SLC34A2 mutation...
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