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[Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2022

Fan Lijuan, Li Yang, Luo Huan, Shen Yajun, Yuan Meng, Yang Zuozhen, Gan Jing

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome. METHODS: Whole exome sequencing was carried out for the child. RESULTS: The patient has presented with developmental delay, hypotonia, strabismus and snoring. Cranial MRI revealed hypomyelination, while the EEGs were normal. Genetic testing revealed a de novo variant of the AHDC1 gene, namely c.730delA...

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PMID: 35446974
DOI: 10.3760/cma.j.cn511374-20210807-00656

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