Article
Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene.
Orphanet journal of rare diseases - 16 May 2024
Shang Qing, Dai Yimin, Huang Jingyi, Liu Wei, Zhou Weixun, Liu Yaping, Yang Hong, Wang Qiang, Li Yue
Abstract excerpt
BACKGROUND AND AIMS: Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especially in Chinese patients. This study aims to reveal clinical and genetic features of Chinese CEAS patients, highlighting the previously unreported or unemphasized characteristics. METHODS: We...
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