[Clinical characterization and genetic analysis of a patient with Fahr disease due to a homozygous variant of JAM2 gene].

doi:10.3760/cma.j.cn511374-20250610-00350

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Article

[Clinical characterization and genetic analysis of a patient with Fahr disease due to a homozygous variant of JAM2 gene].

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

Ma Qian, Shao Wenjun, Wang Yiwei, Hu Zheyu, Liu Fengxun

Abstract excerpt

OBJECTIVE: To explore the clinical presentation and molecular etiology for a patient with Fahr disease due to a variant of JAM2 gene. METHODS: A male patient who had presented at the Department of Neurology of the First Affiliated Hospital of Zhengzhou University in January 2021 for unsteady gait for over six months was selected as study subject. Clinical data including medical history, family history, physical...

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Identifiers

PMID: 42663027
DOI: 10.3760/cma.j.cn511374-20250610-00350

Genes

JAM2
KY

Variants

Provenance

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