Article
Alagille syndrome caused by NOTCH2 mutation presented atypical pathological changes.
Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2021
ShenTu Yiling, Mi Xiaoxiao, Tang Dong, Jiang Yanming, Gao Ling, Ma Xiaojie, Zhou Bing, Yang Wenjun, Shi Junping, Lan Dixiang, Chen Gongying, Gong Ling
Abstract excerpt
BACKGROUND: Alagille syndrome (ALGS) is a rare multisystem disorder caused by mutations in the JAG1 or NOTCH2 gene. However NOTCH2 gene mutations were rarely found in the Alagille patients. Little is known about the clinical and pathological profiles about Alagille patients with NOTCH2 mutation. CASE REPORT: Our case described a 16-year-old female patient manifesting as recurrent jaundice and abnormal liver...
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