Aim: To investigate whether intractable respiratory distress syndrome in three Norwegian
term infants was due to mutations in the ABCA3 gene. Methods: The genes encoding SP‐B …

Rationale: Mutations in genes encoding proteins important in the function and metabolism of
pulmonary surfactant are recognized causes of lung disease. Clinical genetic testing is …

Abstract Surfactant protein C (SP-C) deficiency causes diffuse lung disease with variable
prognosis and severity that usually presents in infancy. We present the case of a patient with …

Although recent decades have seen the identification, classification and discovery of the
genetic basis of many children's interstitial and rare lung disease (chILD) disorders, detailed …

Lung disease affects more than 600 million people worldwide. While some of these lung
diseases have an obvious developmental component, there is growing appreciation that …

Dominant mutations in the surfactant protein-C (SFTPC) gene have been linked with
interstitial lung disease. The frequency of lung disease due to SFTPC mutations in the …

Newly developing genomic technologies are an increasingly important part of clinical care
and thus, it is not only important to understand the technologies and their limitations, but to …

支气管肺发育不良(BPD) 的发病率在我国呈逐年上升趋势, 但其病因及发病机制尚不十分清楚,
研究表明, BPD 的发生不仅与早产及氧体积分数等外源性因素有关, 且有较大的遗传易感性 …

Background: Loss of function mutations in the surfactant protein‐B gene (SFTPB) cause
lethal neonatal respiratory distress due to reduced or absent expression of mature surfactant …

目的报告1 例肺表面活性蛋白(sP) 基因突变相关性婴幼儿肺间质疾病的临床诊断过程, 复习文献,
了解sP 基因突变与婴幼儿肺间质疾病的关系. 方法总结, 分析病例的临床, 胸部影像学 …