Article
[Clinical and genetic analysis of a patient with Mowat-Wilson syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2021
Zhang Pingli, Hou Yanqi, Liao Peiyuan, Yuan Xiang, Li Na, Huang Qikun, Yang Jing
Abstract excerpt
OBJECTIVE: To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS). METHODS: Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing. RESULTS: The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation....
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