A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene

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• 作者：Lara Stokman ; Esther J. Nossent ; Katrien Grunberg ; Lilian Meijboom ; Mustafa C. Yakicier ; Els Voorhoeve and Arjan C. Houweling
• 关键词：Homozygous whole gene deletion ; pulmonary alveolar microlithiasis ; SLC34A2 ; SNP array
• 刊名：Clinical Case Reports
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：4
• 期：4
• 页码：412-415
• 全文大小：1306K
• ISSN：2050-0904

文摘

With around 500 cases published worldwide, pulmonary alveolar microlithiasis is a rare disorder with an autosomal recessive pattern of inheritance. We show for the first time that homozygous deletions encompassing the entire SCL34A2 can be associated with this rare genetic pulmonary disease.