Identifying patients with EVEN-plus syndrome using exome sequencing and clinical feature analysis: A case report.

doi:10.1002/mgg3.2039

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Article

Identifying patients with EVEN-plus syndrome using exome sequencing and clinical feature analysis: A case report.

Molecular genetics & genomic medicine - 1 Nov 2022

Li Hua-Wei, Ma Bing-Xiang, Kong Ya-Min, Zheng Hong, Zhang Xue-Yuan

Abstract excerpt

BACKGROUND: The EVEN-plus syndrome (epiphyseal-vertebral-ear-nose dysplasia plus associated findings) is an extremely rare autosomal recessive inherited disease characterised by specific facial features and skeletal dysplasia. It has a prenatal onset due to defects in the HSPA9 gene. The syndrome has not been reported previously in China. METHODS: This study reported the characteristics, examination results,...

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PMID: 36052765
DOI: 10.1002/mgg3.2039
PMCID: PMC9651607

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