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Article

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

American journal of medical genetics. Part A - 1 Nov 2020

Younger Georgianne, Vetrini Francesco, Weaver David D, Lynnes Ty C, Treat Kayla, Pratt Victoria M, Torres-Martinez Wilfredo

Abstract excerpt

EVEN-PLUS syndrome is a rare condition characterized by its involvement of the Epiphyses, Vertebrae, Ears, and Nose, PLUS other associated findings. We report here the fifth case of EVEN-PLUS syndrome with novel variants c.818 T > G (p.L273X) and c.955C > T (p.L319F) in the HSPA9 gene identified through whole-exome sequencing. The patient is the first male known to be affected and presented with additional...

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PMID: 32869452
DOI: 10.1002/ajmg.a.61808

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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