FOXG1-Related Disorders: From Clinical Description to Molecular Genetics

C. Florian, N. Bahi-Buisson, T. Bienvenu
2011 Molecular Syndromology  
outcome compared to female patients. Finally, about 23 male and female patients have been identified with gross rearrangements encompassing all or part of the CDKL5 gene, with a phenotype reminiscent of CDKL5-related encephalopathy combined with dysmorphic features. Even if recent data clearly indicate that CDKL5 plays an important role in brain function, the protein remains largely uncharacterized. Phenotype-genotype correlation is additionally hampered by the relatively small number of patients described.
doi:10.1159/000327329 fatcat:wn6qwzohljgcnb74bmrkjmhlmm