Article
A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review.
BMC medical genomics - 3 Dec 2022
Li Jie, Wang Xiaozi, Zheng Na, Wang Xiaoning, Liu Yan, Xue Liying
Abstract excerpt
BACKGROUND: The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to make a definite diagnosis due to the variable genotypic features and the lack of well-documented evidence for HS patients. Gene sequence examination is helpful for clear diagnosis. CASE PRESENTATION: We presented the case of a...
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