Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsChildFemaleHumansMaleExome Sequencing
[Clinical and genetic analysis of a Chinese pedigree affected with Vissers-Bodmer syndrome due to variant of CNOT1 gene and a literature review.]
Yake Jiao, Shuhua Yuan, Yongzhen Xue, Yang Xiu, Yunpeng Ge, Yanyan Hu
Published: 202510.3760/cma.j.cn511374-20241221-00672
Abstract
OBJECTIVE: To investigate the clinical and genetic characteristics of a family with Vissers-Bodmer Syndrome (VIBOS) and to review the relevant literature on VIBOS caused by CNOT1 gene variants. METHODS: A child diagnosed with VIBOS due to "growth ret…
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