Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.

Jia-Tong LiZe-Xu ChenXiang-Jun ChenYong-Xiang Jiang

Published in: Orphanet journal of rare diseases (2022)

The data from this study not only enrich the known mutation spectrum of SUOX but also suggest that missense mutations are associated with mild and atypical symptoms.

Keyphrases

machine learning
electronic health record
intellectual disability
case report
depressive symptoms
sleep quality
physical activity
data analysis