[Hereditary spherocytosis with intrahepatic cholestasis caused by SPTB gene mutation in a case].

Yuanda Zhang、Naying Zuo、Sisi Zhang、Qingwei Dong、Shaohui Zhang、Lei Ma、Libing Fu、Zhaolu Ding

2019PubMedMedicine被引 3

摘要

1例主诉为"皮肤发黄6个月余加重3 d"的患儿，综合其临床症状、实验室检查及肝脏病理结果，并完善基因测序示SPTB基因移码突变：c.1791delG，为新发突变。诊断为遗传性球形红细胞增多症。以胆汁淤积起病的遗传性球形红细胞增多症少见。.

引用本文（GB/T 7714）

Yuanda Zhang, Naying Zuo, Sisi Zhang, 等. [Hereditary spherocytosis with intrahepatic cholestasis caused by SPTB gene mutation in a case].[J]. PubMed, 2019.

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DOI：https://doi.org/10.3760/cma.j.issn.0578-1310.2019.11.018

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