Genotype–phenotype relationship among Egyptian children with Rett syndrome

Conclusion: Mutations of MECP2 analysis were detected in 66.7% of RTT cases. There were relationships between the severity score, clinical manifestations, and MECP2 gene mutations. However, there was no relationship between the severity score and specific MECP2 gene mutation.
Source: The Journal Of The Egyptian Public Health Association - Category: Global & Universal Tags: Original articles Source Type: research