Associated Papers
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
39941308 (PubMed )
Supplement: diagnostics-15-00376-s001.zip › diagnostics-3372801-supplementary.xlsx › Hoja1
Identification of novel BCL11A variant in a patient with developmental delay and behavioural differences.
Zha J et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices.
Bruce L et al.
American Journal of Medical Genetics. Part A, 2022
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