Researchers reveal genetic basis of severe forms of EBF3-associated neurodevelopmental disorders
Patients with some gene variants affecting a zinc finger region of EBF3 suffer from a more severe form of the condition.
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neurodevelopmental disorders
The discovery of genes like PAX5 improves diagnostic testing for neurodevelopmental disorders, and more
Discovering new genes that are linked to undiagnosed diseases has relevant scientific and clinical consequences as well as important personal implications for patients.
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Single cells reveal genetic connections of neurodevelopmental disorders
A novel computational approach helps researchers identify connections between genes involved in different neurodevelopmental disorders.
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This two-step approach can expedite finding answers to complex genetic conditions
To function normally, the human brain requires the right amount of a number of proteins, including MeCP2. Having twice the normal amount of MeCP2, the
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Variations in gene ATAD3A can result in distinct neurological syndromes
Research has revealed that a group of rare neurological syndromes for which there was no cause can be the result of variations in the gene
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