Associated Papers
Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.
Pepe G et al.
Genes, 2024
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Keehan L et al.
American Journal of Medical Genetics. Part A, 2022
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