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[Clinical and genetic analysis of a child with Spondyloocular syndrome due to compound heterozygous variants of XYLT2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2024

Chen Miaomiao, Huang Shengxiang, Tian Yu, Wu Xinghan, Zheng Yu, Zhang Shuju, Peng Yu, Wang Hua

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease. METHODS: A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children's Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was...

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PMID: 39528281
DOI: 10.3760/cma.j.cn511374-20240307-00155

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