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Article

A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.

Molecular genetics & genomic medicine - 1 Jan 2024

Liu Ming, Li Huanhuan, Ren Shuhong, Ding Changhong

Abstract excerpt

BACKGROUND: Epiphyseal, Vertebral, Ear, and Nose (EVEN)-PLUS syndrome is a rare condition characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose, plus other associated findings, due to pathogenic variants in the HSPA9 gene. Due to the sparse number of patients, the clinical phenotypic spectrum is not clear. METHODS: We report two patients with pathogenic HSPA9 variants from a Chinese family....

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Identifiers

PMID: 38284453
DOI: 10.1002/mgg3.2335
PMCID: PMC10797836

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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