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Article

[Clinical and genetic analysis of four Chinese pedigrees affected with NAA15-related intellectual developmental disorder].

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

Xuan Xiaoyan, Tang Jian, Zhao Xiaoke

Abstract excerpt

OBJECTIVE: To elucidate the clinical phenotype and molecular genetic characteristics of intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities (MRD50) due to variants of NAA15 gene. METHODS: A retrospective analysis was carried out on the clinical data of four MRT50 pedigrees (7 patients in total) diagnosed at the Children's Hospital of Nanjing Medical University between...

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Identifiers

PMID: 42091191
DOI: 10.3760/cma.j.cn511374-20250711-00421

Genes

NAA15

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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