Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report
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DOI: 10.1002/mgg3.2039
Abstract: 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… read more here.
Keywords: using exome; syndrome using; identifying patients; plus syndrome ... See more keywords