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Two Siblings with Missense Homozygous ABCA3 R43H Mutation Showing Good Response to Glucocorticoid.

作者信息

Mocan Çağlar Yasemin, Ülgen Özge, Can Oksay Sinem, Mavi Tortop Deniz, Bilgin Gülay, Yılmaz Güleç Elif, Girit Saniye

机构信息

Division of Pediatric Pulmonology, Department of Pediatrics, Istanbul Medeniyet University, Istanbul, Türkiye.

Department of Medical Genetics and Pediatrics, Istanbul Medeniyet University, Istanbul, Türkiye.

出版信息

Indian J Pediatr. 2025 Aug;92(8):885. doi: 10.1007/s12098-025-05602-x. Epub 2025 Jun 4.

Abstract
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