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[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].

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

Zhu Liping, Han Yuzeng, Qiu Shiyan, Xu Na, Zhang Xin, Li Yufen, Yang Li

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology of a child with SPONASTRIME dysplasia (SD). METHODS: A 9-month-old female who had presented at the Linyi People's Hospital in August 2022 for short stature was selected as the study subject. Clinical data of the child were collected, and whole exome sequencing (WES) was carried out. Sanger sequencing was used for validating the candidate variants....

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PMID: 38684304
DOI: 10.3760/cma.j.cn511374-20230426-00244

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