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

ConclusionsHSPA9 gene mutations should be suspected in all cases with specific craniofacial features, abnormal skeletal presentations, congenital heart defects, and renal alterations. Seizures and basal ganglia lesions are a new phenotype of EVEN-PLUS syndrome.

https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2335?af=R

Source: Molecular Genetics & Genomic Medicine - January 20, 2024 Category: Genetics & Stem Cells Authors: Ming Liu, Huanhuan Li, Shuhong Ren, Changhong Ding Tags: ORIGINAL ARTICLE Source Type: research