First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus
Author:
Affiliation:
1. Department of Pediatrics, Soonchunhyang University Seoul Hospital, Seoul, Korea
Funder
Soonchunhyang University
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2018/015/JGM015-02-07.pdf
Reference20 articles.
1. STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
2. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
3. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
4. Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility
5. New and recurrent gain-of-functionSTAT1mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
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