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Article

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.

Clinical genetics - 1 Dec 2022

Yang Liqing, Shu Huiying, Zhou Min, Gong Yuping

Abstract excerpt

Hereditary spherocytosis (HS) is a prevalent inherited hemolytic disorder primarily reported in Caucasians. Recently, next-generation sequencing (NGS) techniques have shown tremendous potential in the diagnosis of HS. HS commonly originates from variants in ANK1, SPTB, SLC4A1, SPTA1, and EPB42. This review is focused on 13 previous clinical studies on genotype-phenotype correlation, which might promote the role...

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Identifiers

PMID: 36071563
DOI: 10.1111/cge.14223

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