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Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan–McDermid syndrome, result in a syndromic form of the autism spectrum as well as… Click to show full abstract
Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan–McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual disability, and several neuropsychiatric comorbidities. The exact pathophysiological mechanisms underlying the disease are still far from being deciphered but studies of SHANK3 models have contributed to the understanding of how the loss of the synaptic protein SHANK3 affects neuronal function.
Keywords:
deficiency human;
shank3 deficiency;
severe white;
matter damage;
damage shank3;
white matter
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2019
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!