Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHumansMaleFrameshift MutationInfantDioxygenases
[Analysis of clinical and genetic characteristics in a patient with Beck-Fahrner syndrome due to a frameshift variant of TET3 gene].
Xiaoyan Xuan, Xiaoke Zhao, Jun Li
Published: 202510.3760/cma.j.cn511374-20241019-00547
Abstract
OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Beck-Fahrner syndrome attributed to a TET3 gene variants. METHODS: A case of Beck-Fahrner syndrome (proband) who was treated at the Children's Hospital of Nanjing Medica…
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