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[Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2023

Gong Jiaoe, Jiang Zhi, Hu Wenjing, Liao Hongmei, Wang Hua

Abstract excerpt

OBJECTIVE: To explore the diagnosis, treatment and genetic analysis of an infant with Schaaf-Yang syndrome (SYS). METHODS: An infant suspected for SYS at the Hunan Provincial Children's Hospital on June 10, 2022 was subjected to trio-whole exome sequencing, and Sanger sequencing was used to verify the candidate variant. Structure of the wild-type and mutant proteins was constructed to analyze the potential...

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Down-Regulation
Heterozygote
Infant
Mutation
Parents

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PMID: 37730232
DOI: 10.3760/cma.j.cn511374-20220615-00409

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