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

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 ha...

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Detalles Bibliográficos
Autores principales: Li, Hua‐Wei, Ma, Bing‐Xiang, Kong, Ya‐Min, Zheng, Hong, Zhang, Xue‐Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651607/
https://www.ncbi.nlm.nih.gov/pubmed/36052765
http://dx.doi.org/10.1002/mgg3.2039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651607/
https://www.ncbi.nlm.nih.gov/pubmed/36052765
http://dx.doi.org/10.1002/mgg3.2039

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