[autismo-biologia] Top autism candidate gene tied to newly identified syndrome

[Enrico Toffolo]

segnalo articolo

https://www.spectrumnews.org/news/top-autism-candidate-gene-tied-to-newly-identified-syndrome/

People with mutations in the PAX5 gene have a distinct neurodevelopmental
syndrome <https://doi.org/10.1002/humu.24332> characterized by a range of
traits, including developmental delay, intellectual disability, seizures
and autism, according to a new study of 16 children and young adults.


*As clinicians, they expect to continue connecting with individuals who
have PAX5 mutations.*
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