Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1
Author:
Funder
CAMS Innovations Fund for Medical Sciences
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
https://link.springer.com/content/pdf/10.1007/s10633-023-09953-8.pdf
Reference31 articles.
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2. Guo CJ, Leung PSC, Zhang W, Ma X, Gershwin ME (2018) The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1). Autoimmun Rev 17(1):78–85
3. Orlova EM, Sozaeva LS, Kareva MA, Oftedal BE, Wolff ASB, Breivik L et al (2017) Expanding the phenotypic and genotypic landscape of autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 102(9):3546–3556
4. Sharifinejad N, Zaki-Dizaji M, Tebyanian S, Zainaldain H, Jamee M, Rizvi FS et al (2021) Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review. Expert Rev Clin Immunol 17(8):807–817
5. Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990) Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 322(26):1829–1836
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