Has experience in Genetics, focusing on Genetics (Source: Lattes Curriculum)
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Phelan-McDermid Syndrome (PMS), a synaptopathy associated with Autism Spectrum Disorder (ASD) and intellectual disability, is caused by loss-of-function alterations in the SHANK3 gene, which is critical for cortical development and the maintenance of brain connectivity. In addition to neurodevelopmental delays, individuals with PMS frequently experience episodes of cognitive and neurologi…
Phelan-McDermid Syndrome (PMS) is a rare genetic disease characterized by global developmental delay, Intellectual Disability (ID) and Autism Spectrum Disorder (ASD), associated with several comorbidities caused by SHANK3 loss-of-function mutations. Although SHANK3 haploinsufficiency has been described as a major cause of neurological symptoms of PMS, it cannot explain the spectrum of cli…
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CV Lattes
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