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[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2025

Peng Delong, Han Chunxiao, Yan LuLu, Li Haibo, Yan Haiya

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic etiology of STISS syndrome (an autosomal dominant disorder characterized by ubiquitin-proteasome system dysfunction) in a child. METHODS: A child with STISS syndrome diagnosed at the Affiliated Women and Children's Hospital of Ningbo University in September 2024 due to "abnormal development of external genitalia" was selected as the study subject....

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Identifiers

PMID: 41811043
DOI: 10.3760/cma.j.cn511374-20250225-00107

Genes

PSMD12

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