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[Phenotypic heterogeneity and management strategies for two brothers with XIAP deficiency syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2026

Hu Hui, Wu Shengnan, Chen Kai, Shao Jingbo, Zhang Ting, Xiao Yongmei

Abstract excerpt

OBJECTIVE: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. METHODS: This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang,...

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Identifiers

PMID: 41663302
DOI: 10.3760/cma.j.cn511374-20251023-00623

Genes

XIAP

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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