New and Inherited STAT1 Mutations in a Chinese Family with Chronic Mucocutaneous Candidiasis: A Case Report

A mild clinical Chronic Mucocutaneous Candidiasis (CMC) phenotype with STAT1 transcription factor mutation has been identified in a Chinese family. It is a rare variant in STAT1 (NM_0073315.3c.1175T>C Met392Thr). Specifically, it is a heterozygous mutation. To date, the pathogenicity of this var...

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Bibliographic Details
Main Authors: Xiaoheng XU, Wenxia MENG, Lu FENG, Wei GUO
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2020-06-01
Series:Iranian Journal of Public Health
Subjects:
Online Access:https://ijph.tums.ac.ir/index.php/ijph/article/view/17966