Background: Mutations in the ATP-binding cassette transporter A3 (ABCA3) gene are one of the most common surfactant disorders leading to interstitial lung diseases (ILD). The clinical spectrum and severity of lung disease caused by ABCA3 deficiency due to missense variants is variable.

中文翻译：

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新的纯合 ABCA3 变异导致肺部疾病的可变表达

背景： ATP 结合盒转运蛋白 A3 ( ABCA3 ) 基因的突变是导致间质性肺病 (ILD) 的最常见的表面活性剂疾病之一。由错义变异导致的 ABCA3 缺乏引起的肺部疾病的临床谱和严重程度是可变的。