Загрузка...

Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series

BACKGROUND: Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and this study aims to describe the phenotypes and genetic characterization in C...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Orphanet J Rare Dis
Главные авторы: Wang, Ya-Bing, Wang, Ou, Nie, Min, Jiang, Yan, Li, Mei, Xia, Wei-Bo, Xing, Xiao-Ping
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2021
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8254246/
https://ncbi.nlm.nih.gov/pubmed/34217342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01933-y
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!